Linked Data
dbSNP Id:
rs771207219
ExAC:
2:157435524 T / G
gnomAD v2:
2-157435524-T-G
gnomAD v3:
2-156579012-T-G
gnomAD v4:
2-156579012-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.156579012T>G , CM000664.2:g.156579012T>G | GRCh38 |
| NC_000002.11:g.157435524T>G , CM000664.1:g.157435524T>G | GRCh37 |
| NC_000002.10:g.157143770T>G | NCBI36 |
| NG_016606.1:g.148560T>G | |
| NG_016606.2:g.148560T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438166.7:c.1880+11T>G MANE Select | ENSP00000409708.2:n.1880+11T>G | |
| ENST00000310454.10:c.1880+11T>G | ENSP00000308610.5:n.1880+11T>G | |
| ENST00000409125.8:c.1502+11T>G | ENSP00000386484.5:n.1502+11T>G | |
| ENST00000409674.5:c.1880+11T>G | ENSP00000386425.1:n.1880+11T>G | |
| ENST00000409861.5:c.1880+11T>G | ENSP00000386626.1:n.1880+11T>G | |
| ENST00000438166.6:c.1880+11T>G | ENSP00000409708.2:n.1880+11T>G | |
| ENST00000464846.5:n.245T>G | ||
| ENST00000540309.5:c.1135-74T>G | ENSP00000440892.1:n.1135-74T>G | |
| NM_000408.4:c.1880+11T>G | NP_000399.3:n.1880+11T>G | |
| NM_001083112.2:c.1880+11T>G | NP_001076581.2:n.1880+11T>G | |
| XM_005246469.1:c.1880+11T>G | XP_005246526.1:n.1880+11T>G | |
| XM_005246470.3:c.1778+11T>G | XP_005246527.1:n.1778+11T>G | |
| XM_011510977.1:c.1880+11T>G | XP_011509279.1:n.1880+11T>G | |
| XM_011510978.1:c.1778+11T>G | XP_011509280.1:n.1778+11T>G | |
| XM_011510979.1:c.1502+11T>G | XP_011509281.1:n.1502+11T>G | |
| XM_011510980.1:c.1199+11T>G | XP_011509282.1:n.1199+11T>G | |
| XM_005246469.2:c.1880+11T>G | XP_005246526.1:n.1880+11T>G | |
| XM_011510977.2:c.1880+11T>G | XP_011509279.1:n.1880+11T>G | |
| XM_011510978.2:c.1778+11T>G | XP_011509280.1:n.1778+11T>G | |
| XM_017003830.1:c.1880+11T>G | XP_016859319.1:n.1880+11T>G | |
| XM_024452798.1:c.1880+11T>G | XP_024308566.1:n.1880+11T>G | |
| NM_000408.5:c.1880+11T>G MANE Select | NP_000399.3:n.1880+11T>G | |
| NM_001083112.3:c.1880+11T>G | NP_001076581.2:n.1880+11T>G |