gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414737G>A , CM000667.2:g.1414737G>A | GRCh38 |
| NC_000005.9:g.1414852G>A , CM000667.1:g.1414852G>A | GRCh37 |
| NC_000005.8:g.1467852G>A | NCBI36 |
| NG_015885.1:g.35692C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1110C>T MANE Select | ENSP00000270349.9:p.Tyr370= | |
| ENST00000270349.11:c.1110C>T | ENSP00000270349.9:p.Tyr370= | |
| NM_001044.4:c.1110C>T | NP_001035.1:p.Tyr370= | |
| NM_001044.5:c.1110C>T MANE Select | NP_001035.1:p.Tyr370= |