Linked Data
dbSNP Id:
rs11748431
gnomAD v2:
5-180068741-G-A
gnomAD v3:
5-180641741-G-A
gnomAD v4:
5-180641741-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180641741G>A , CM000667.2:g.180641741G>A | GRCh38 |
| NC_000005.9:g.180068741G>A , CM000667.1:g.180068741G>A | GRCh37 |
| NC_000005.8:g.180001347G>A | NCBI36 |
| NG_011536.1:g.12884C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261937.11:c.58+7747C>T MANE Select | ENSP00000261937.6:n.58+7747C>T | |
| ENST00000261937.10:c.58+7747C>T | ENSP00000261937.6:n.58+7747C>T | |
| ENST00000393347.7:c.58+7747C>T | ENSP00000377016.3:n.58+7747C>T | |
| ENST00000424276.6:n.58+7747C>T | ||
| ENST00000502293.5:n.58+7747C>T | ||
| ENST00000502649.5:c.58+7747C>T | ENSP00000426057.1:n.58+7747C>T | |
| ENST00000513527.1:n.58+7747C>T | ||
| ENST00000619105.4:c.58+7747C>T | ENSP00000481134.1:n.58+7747C>T | |
| NM_002020.4:c.58+7747C>T | NP_002011.2:n.58+7747C>T | |
| NM_182925.4:c.58+7747C>T | NP_891555.2:n.58+7747C>T | |
| XM_011534477.1:c.289+3126C>T | XP_011532779.1:n.289+3126C>T | |
| XM_011534478.1:c.289+3126C>T | XP_011532780.1:n.289+3126C>T | |
| XM_011534479.1:c.289+3126C>T | XP_011532781.1:n.289+3126C>T | |
| XM_011534480.1:c.289+3126C>T | XP_011532782.1:n.289+3126C>T | |
| XM_011534481.1:c.289+3126C>T | XP_011532783.1:n.289+3126C>T | |
| XM_011534482.1:c.58+7747C>T | XP_011532784.1:n.58+7747C>T | |
| XM_011534483.1:c.-21+8478C>T | XP_011532785.1:n.-21+8478C>T | |
| XR_941095.1:n.301+3126C>T | ||
| NM_001354989.1:c.58+7747C>T | NP_001341918.1:n.58+7747C>T | |
| XM_011534478.3:c.289+3126C>T | XP_011532780.1:n.289+3126C>T | |
| XM_017009263.1:c.289+3126C>T | XP_016864752.1:n.289+3126C>T | |
| XM_017009264.2:c.289+3126C>T | XP_016864753.1:n.289+3126C>T | |
| XM_017009265.1:c.289+3126C>T | XP_016864754.1:n.289+3126C>T | |
| XM_017009266.1:c.289+3126C>T | XP_016864755.1:n.289+3126C>T | |
| XM_017009267.2:c.289+3126C>T | XP_016864756.1:n.289+3126C>T | |
| XM_017009268.1:c.-21+8478C>T | XP_016864757.1:n.-21+8478C>T | |
| XR_001742050.2:n.523+3126C>T | ||
| NM_182925.5:c.58+7747C>T MANE Select | NP_891555.2:n.58+7747C>T | |
| NM_001354989.2:c.58+7747C>T | NP_001341918.1:n.58+7747C>T | |
| NM_002020.5:c.58+7747C>T | NP_002011.2:n.58+7747C>T |