Linked Data
dbSNP Id:
rs768294996
ExAC:
2:206992645 G / C
gnomAD v2:
2-206992645-G-C
gnomAD v4:
2-206127921-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206127921G>C , CM000664.2:g.206127921G>C | GRCh38 |
| NC_000002.11:g.206992645G>C , CM000664.1:g.206992645G>C | GRCh37 |
| NC_000002.10:g.206700890G>C | NCBI36 |
| NG_009248.1:g.36543C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233190.11:c.1760C>G MANE Select | ENSP00000233190.5:p.Ala587Gly | |
| ENST00000233190.10:c.1760C>G | ENSP00000233190.5:p.Ala587Gly | |
| ENST00000423725.5:c.1589C>G | ENSP00000397760.1:p.Ala530Gly | |
| ENST00000432169.5:c.1427C>G | ENSP00000409689.1:p.Ala476Gly | |
| ENST00000440274.5:c.1652C>G | ENSP00000409766.1:p.Ala551Gly | |
| ENST00000449699.5:c.1760C>G | ENSP00000399912.1:p.Ala587Gly | |
| ENST00000455934.6:c.1802C>G | ENSP00000392709.2:p.Ala601Gly | |
| ENST00000457011.5:c.1412C>G | ENSP00000400976.1:p.Ala471Gly | |
| ENST00000498520.1:n.232C>G | ||
| NM_001199981.1:c.1652C>G | NP_001186910.1:p.Ala551Gly | |
| NM_001199982.1:c.1427C>G | NP_001186911.1:p.Ala476Gly | |
| NM_001199983.1:c.1589C>G | NP_001186912.1:p.Ala530Gly | |
| NM_001199984.1:c.1802C>G | NP_001186913.1:p.Ala601Gly | |
| NM_005006.6:c.1760C>G | NP_004997.4:p.Ala587Gly | |
| XM_017004188.2:c.1001C>G | XP_016859677.1:p.Ala334Gly | |
| NM_001199981.2:c.1652C>G | NP_001186910.1:p.Ala551Gly | |
| NM_001199982.2:c.1427C>G | NP_001186911.1:p.Ala476Gly | |
| NM_001199983.2:c.1589C>G | NP_001186912.1:p.Ala530Gly | |
| NM_005006.7:c.1760C>G MANE Select | NP_004997.4:p.Ala587Gly | |
| NM_001199984.2:c.1802C>G | NP_001186913.1:p.Ala601Gly |