Linked Data
dbSNP Id:
rs1081062
gnomAD v2:
8-31500264-G-A
gnomAD v3:
8-31642748-G-A
gnomAD v4:
8-31642748-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31642748G>A , CM000670.2:g.31642748G>A | GRCh38 |
| NC_000008.10:g.31500264G>A , CM000670.1:g.31500264G>A | GRCh37 |
| NC_000008.9:g.31619806G>A | NCBI36 |
| NG_012005.1:g.7997G>A | |
| NG_012005.2:g.8527G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000519301.6:c.37+3317G>A | ENSP00000429582.1:n.37+3317G>A | |
| ENST00000650856.1:c.37+3317G>A | ENSP00000498216.1:n.37+3317G>A | |
| ENST00000650866.1:c.37+3317G>A | ENSP00000499045.1:n.37+3317G>A | |
| ENST00000651149.1:c.37+3317G>A | ENSP00000498375.1:n.37+3317G>A | |
| ENST00000651335.1:c.71+2019G>A | ||
| ENST00000652698.1:c.37+3317G>A | ENSP00000499008.1:n.37+3317G>A | |
| ENST00000518104.5:c.37+3317G>A | ENSP00000430053.1:n.37+3317G>A | |
| ENST00000519301.5:c.37+3317G>A | ENSP00000429582.1:n.37+3317G>A | |
| ENST00000520407.5:c.745+2019G>A | ENSP00000434640.1:n.745+2019G>A | |
| ENST00000523534.5:c.304+2019G>A | ENSP00000429067.1:n.304+2019G>A | |
| NM_001159995.1:c.37+3317G>A | NP_001153467.1:n.37+3317G>A | |
| NM_001159999.1:c.37+3317G>A | NP_001153471.1:n.37+3317G>A | |
| NM_001160001.1:c.37+3317G>A | NP_001153473.1:n.37+3317G>A | |
| NM_013962.2:c.745+2019G>A | NP_039256.2:n.745+2019G>A | |
| XM_011544512.1:c.121+2019G>A | XP_011542814.1:n.121+2019G>A | |
| NM_001159995.2:c.37+3317G>A | NP_001153467.1:n.37+3317G>A | |
| NM_001159999.2:c.37+3317G>A | NP_001153471.1:n.37+3317G>A | |
| NM_001160001.2:c.37+3317G>A | NP_001153473.1:n.37+3317G>A | |
| NM_001322201.1:c.-556+3317G>A | NP_001309130.1:n.-556+3317G>A | |
| NM_001322202.1:c.-505+3317G>A | NP_001309131.1:n.-505+3317G>A | |
| XM_011544512.2:c.121+2019G>A | XP_011542814.1:n.121+2019G>A | |
| XM_017013365.2:c.121+2019G>A | XP_016868854.1:n.121+2019G>A | |
| XM_017013366.2:c.121+2019G>A | XP_016868855.1:n.121+2019G>A | |
| XM_017013367.1:c.121+2019G>A | XP_016868856.1:n.121+2019G>A | |
| XM_017013371.2:c.121+2019G>A | XP_016868860.1:n.121+2019G>A | |
| XM_017013372.2:c.121+2019G>A | XP_016868861.1:n.121+2019G>A | |
| NM_001159995.3:c.37+3317G>A | NP_001153467.1:n.37+3317G>A | |
| NM_001159999.3:c.37+3317G>A | NP_001153471.1:n.37+3317G>A | |
| NM_001160001.3:c.37+3317G>A | NP_001153473.1:n.37+3317G>A | |
| NM_001322201.2:c.-556+3317G>A | NP_001309130.1:n.-556+3317G>A | |
| NM_001322202.2:c.-505+3317G>A | NP_001309131.1:n.-505+3317G>A | |
| NM_013962.3:c.745+2019G>A | NP_039256.2:n.745+2019G>A |