gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23607890G>C , CM000678.2:g.23607890G>C | GRCh38 |
| NC_000016.9:g.23619211G>C , CM000678.1:g.23619211G>C | GRCh37 |
| NC_000016.8:g.23526712G>C | NCBI36 |
| NG_007406.1:g.38468C>G , LRG_308:g.38468C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3330C>G | ENSP00000460666.3:p.Tyr1110Ter | |
| ENST00000565038.2:c.*805C>G | ENSP00000459882.2:n.*805C>G | |
| ENST00000566069.6:c.3202-4221C>G | ENSP00000459237.2:n.3202-4221C>G | |
| ENST00000697377.2:c.3168C>G | ENSP00000513286.2:p.Tyr1056Ter | |
| ENST00000697379.2:c.3330C>G | ENSP00000513287.2:p.Tyr1110Ter | |
| ENST00000561514.2:c.2439C>G | ENSP00000460666.2:p.Tyr813Ter | |
| ENST00000697374.1:c.2439C>G | ENSP00000513284.1:p.Tyr813Ter | |
| ENST00000697375.1:n.4671C>G | ||
| ENST00000697376.1:c.2317-4221C>G | ENSP00000513285.1:n.2317-4221C>G | |
| ENST00000697377.1:c.2277C>G | ENSP00000513286.1:p.Tyr759Ter | |
| ENST00000697378.1:n.3844C>G | ||
| ENST00000697379.1:c.2439C>G | ENSP00000513287.1:p.Tyr813Ter | |
| ENST00000697380.1:n.2528C>G | ||
| ENST00000697381.1:n.2019C>G | ||
| ENST00000697382.1:c.*101C>G | ENSP00000513288.1:n.*101C>G | |
| ENST00000697383.1:c.858C>G | ENSP00000513289.1:p.Tyr286Ter | |
| ENST00000261584.9:c.3324C>G MANE Select | ENSP00000261584.4:p.Tyr1108Ter | |
| ENST00000261584.8:c.3324C>G | ENSP00000261584.4:p.Tyr1108Ter | |
| ENST00000566069.5:c.117-4221C>G | ||
| ENST00000568219.5:c.2439C>G | ENSP00000454703.2:p.Tyr813Ter | |
| NM_024675.3:c.3324C>G , LRG_308t1:c.3324C>G | NP_078951.2:p.Tyr1108Ter | |
| XM_011545946.1:c.3330C>G | XP_011544248.1:p.Tyr1110Ter | |
| XM_011545947.1:c.3208-4221C>G | XP_011544249.1:n.3208-4221C>G | |
| XM_011545948.1:c.2439C>G | XP_011544250.1:p.Tyr813Ter | |
| XR_950851.1:n.4032C>G | ||
| XM_011545946.2:c.3330C>G | XP_011544248.1:p.Tyr1110Ter | |
| XM_011545947.2:c.3208-4221C>G | XP_011544249.1:n.3208-4221C>G | |
| XM_011545948.2:c.2439C>G | XP_011544250.1:p.Tyr813Ter | |
| XM_017023671.1:c.3120-4221C>G | XP_016879160.1:n.3120-4221C>G | |
| XM_017023672.2:c.3114-4221C>G | XP_016879161.1:n.3114-4221C>G | |
| XM_017023673.2:c.3202-4221C>G | XP_016879162.1:n.3202-4221C>G | |
| NM_024675.4:c.3324C>G MANE Select | NP_078951.2:p.Tyr1108Ter |