gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.61997361A>G , CM000672.2:g.61997361A>G | GRCh38 |
| NC_000010.10:g.63757120A>G , CM000672.1:g.63757120A>G | GRCh37 |
| NC_000010.9:g.63427126A>G | NCBI36 |
| NG_030027.1:g.101108A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279873.12:c.503-2730A>G MANE Select | ENSP00000279873.7:n.503-2730A>G | |
| ENST00000644638.1:c.503-2730A>G | ENSP00000494412.1:n.503-2730A>G | |
| ENST00000681100.1:c.503-2730A>G | ENSP00000506119.1:n.503-2730A>G | |
| ENST00000279873.11:c.503-2730A>G | ENSP00000279873.7:n.503-2730A>G | |
| NM_032199.2:c.503-2730A>G | NP_115575.1:n.503-2730A>G | |
| XM_011540262.1:c.503-53527A>G | XP_011538564.1:n.503-53527A>G | |
| XR_945998.1:n.1135T>C | ||
| XM_024448230.1:c.-65-2730A>G | XP_024303998.1:n.-65-2730A>G | |
| NM_032199.3:c.503-2730A>G MANE Select | NP_115575.1:n.503-2730A>G |