gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122406099G>C , CM000672.2:g.122406099G>C | GRCh38 |
| NC_000010.10:g.124165615G>C , CM000672.1:g.124165615G>C | GRCh37 |
| NC_000010.9:g.124155605G>C | NCBI36 |
| NG_027823.1:g.36522G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368990.8:c.245-477G>C MANE Select | ENSP00000357986.3:n.245-477G>C | |
| ENST00000368988.5:c.245-477G>C | ENSP00000357984.2:n.245-477G>C | |
| ENST00000368989.6:c.245-477G>C | ENSP00000357985.1:n.245-477G>C | |
| ENST00000368990.7:c.245-477G>C | ENSP00000357986.3:n.245-477G>C | |
| ENST00000392799.7:c.245-477G>C | ENSP00000376547.3:n.245-477G>C | |
| ENST00000433307.2:c.245-477G>C | ENSP00000394416.1:n.245-477G>C | |
| ENST00000463663.6:c.245-477G>C | ENSP00000473424.1:n.245-477G>C | |
| ENST00000494222.5:n.330-6821G>C | ||
| NM_001001974.2:c.245-477G>C | NP_001001974.1:n.245-477G>C | |
| NM_001195608.1:c.245-477G>C | NP_001182537.1:n.245-477G>C | |
| NM_021622.4:c.245-477G>C | NP_067635.2:n.245-477G>C | |
| XM_005270016.1:c.245-477G>C | XP_005270073.1:n.245-477G>C | |
| XM_005270019.1:c.245-477G>C | XP_005270076.1:n.245-477G>C | |
| XM_005270020.1:c.245-477G>C | XP_005270077.1:n.245-477G>C | |
| XM_005270021.3:c.245-477G>C | XP_005270078.1:n.245-477G>C | |
| XM_011540017.1:c.245-477G>C | XP_011538319.1:n.245-477G>C | |
| XM_011540018.1:c.245-477G>C | XP_011538320.1:n.245-477G>C | |
| XM_011540019.1:c.245-477G>C | XP_011538321.1:n.245-477G>C | |
| XM_011540020.1:c.245-477G>C | XP_011538322.1:n.245-477G>C | |
| XM_011540021.1:c.245-477G>C | XP_011538323.1:n.245-477G>C | |
| XM_011540022.1:c.245-477G>C | XP_011538324.1:n.245-477G>C | |
| XM_011540023.1:c.245-477G>C | XP_011538325.1:n.245-477G>C | |
| XM_011540024.1:c.245-477G>C | XP_011538326.1:n.245-477G>C | |
| XM_011540025.1:c.245-477G>C | XP_011538327.1:n.245-477G>C | |
| XM_011540026.1:c.245-477G>C | XP_011538328.1:n.245-477G>C | |
| NM_001330178.1:c.245-477G>C | NP_001317107.1:n.245-477G>C | |
| XM_005270016.2:c.245-477G>C | XP_005270073.1:n.245-477G>C | |
| XM_005270019.2:c.245-477G>C | XP_005270076.1:n.245-477G>C | |
| XM_005270021.5:c.245-477G>C | XP_005270078.1:n.245-477G>C | |
| XM_017016478.2:c.245-477G>C | XP_016871967.1:n.245-477G>C | |
| XM_017016479.2:c.245-477G>C | XP_016871968.1:n.245-477G>C | |
| XM_017016480.1:c.245-477G>C | XP_016871969.1:n.245-477G>C | |
| XM_017016481.1:c.245-477G>C | XP_016871970.1:n.245-477G>C | |
| XM_017016482.1:c.245-477G>C | XP_016871971.1:n.245-477G>C | |
| XM_017016483.1:c.245-477G>C | XP_016871972.1:n.245-477G>C | |
| XM_017016484.1:c.245-477G>C | XP_016871973.1:n.245-477G>C | |
| XM_017016485.1:c.245-477G>C | XP_016871974.1:n.245-477G>C | |
| XM_017016486.1:c.245-477G>C | XP_016871975.1:n.245-477G>C | |
| XM_017016487.1:c.245-477G>C | XP_016871976.1:n.245-477G>C | |
| XM_017016488.1:c.245-477G>C | XP_016871977.1:n.245-477G>C | |
| XM_017016489.2:c.245-477G>C | XP_016871978.1:n.245-477G>C | |
| XM_017016490.1:c.245-477G>C | XP_016871979.1:n.245-477G>C | |
| XM_017016491.1:c.245-477G>C | XP_016871980.1:n.245-477G>C | |
| XM_024448107.1:c.245-477G>C | XP_024303875.1:n.245-477G>C | |
| XM_024448108.1:c.245-477G>C | XP_024303876.1:n.245-477G>C | |
| XM_024448109.1:c.245-477G>C | XP_024303877.1:n.245-477G>C | |
| XM_024448110.1:c.245-477G>C | XP_024303878.1:n.245-477G>C | |
| XM_024448111.1:c.245-477G>C | XP_024303879.1:n.245-477G>C | |
| XM_024448112.1:c.245-477G>C | XP_024303880.1:n.245-477G>C | |
| XM_024448113.1:c.245-477G>C | XP_024303881.1:n.245-477G>C | |
| XM_024448114.1:c.245-477G>C | XP_024303882.1:n.245-477G>C | |
| XM_024448115.1:c.245-477G>C | XP_024303883.1:n.245-477G>C | |
| XM_024448116.1:c.245-477G>C | XP_024303884.1:n.245-477G>C | |
| XM_024448117.1:c.245-477G>C | XP_024303885.1:n.245-477G>C | |
| NM_001001974.3:c.245-477G>C | NP_001001974.1:n.245-477G>C | |
| NM_001195608.2:c.245-477G>C | NP_001182537.1:n.245-477G>C | |
| NM_001330178.2:c.245-477G>C | NP_001317107.1:n.245-477G>C | |
| NM_001377230.1:c.245-477G>C | NP_001364159.1:n.245-477G>C | |
| NM_001377231.1:c.245-477G>C | NP_001364160.1:n.245-477G>C | |
| NM_001377232.1:c.245-477G>C | NP_001364161.1:n.245-477G>C | |
| NM_001377234.1:c.245-477G>C | NP_001364163.1:n.245-477G>C | |
| NM_001377235.1:c.245-477G>C | NP_001364164.1:n.245-477G>C | |
| NM_001377237.1:c.245-477G>C | NP_001364166.1:n.245-477G>C | |
| NM_001377238.1:c.245-477G>C | NP_001364167.1:n.245-477G>C | |
| NM_001377240.1:c.245-477G>C | NP_001364169.1:n.245-477G>C | |
| NM_001377241.1:c.245-477G>C | NP_001364170.1:n.245-477G>C | |
| NM_001377242.1:c.245-477G>C | NP_001364171.1:n.245-477G>C | |
| NM_001377243.1:c.245-477G>C | NP_001364172.1:n.245-477G>C | |
| NM_001377244.1:c.245-477G>C | NP_001364173.1:n.245-477G>C | |
| NM_001377245.1:c.245-477G>C | NP_001364174.1:n.245-477G>C | |
| NM_001377246.1:c.245-477G>C | NP_001364175.1:n.245-477G>C | |
| NM_001377247.1:c.245-477G>C | NP_001364176.1:n.245-477G>C | |
| NM_001377248.1:c.245-477G>C | NP_001364177.1:n.245-477G>C | |
| NM_001377249.1:c.185-477G>C | NP_001364178.1:n.185-477G>C | |
| NM_001377250.1:c.245-477G>C | NP_001364179.1:n.245-477G>C | |
| NM_001377251.1:c.245-477G>C | NP_001364180.1:n.245-477G>C | |
| NM_001377252.1:c.199-6821G>C | NP_001364181.1:n.199-6821G>C | |
| NM_001377253.1:c.199-6821G>C | NP_001364182.1:n.199-6821G>C | |
| NM_001377254.1:c.199-6821G>C | NP_001364183.1:n.199-6821G>C | |
| NM_001377255.1:c.199-6821G>C | NP_001364184.1:n.199-6821G>C | |
| NM_001377256.1:c.119-477G>C | NP_001364185.1:n.119-477G>C | |
| NM_001377257.1:c.199-6821G>C | NP_001364186.1:n.199-6821G>C | |
| NM_001377258.1:c.245-477G>C | NP_001364187.1:n.245-477G>C | |
| NM_021622.5:c.245-477G>C | NP_067635.2:n.245-477G>C | |
| NR_165160.1:n.482-477G>C | ||
| NR_165161.1:n.434-477G>C | ||
| NR_165162.1:n.433+5711G>C | ||
| NR_165164.1:n.388-477G>C | ||
| NR_165165.1:n.482-477G>C | ||
| NM_001001974.4:c.245-477G>C MANE Select | NP_001001974.1:n.245-477G>C |