Linked Data
dbSNP Id:
rs757293919
ExAC:
3:119526233 G / T
gnomAD v2:
3-119526233-G-T
gnomAD v4:
3-119807386-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119807386G>T , CM000665.2:g.119807386G>T | GRCh38 |
| NC_000003.11:g.119526233G>T , CM000665.1:g.119526233G>T | GRCh37 |
| NC_000003.10:g.121008923G>T | NCBI36 |
| NG_011856.1:g.31903G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393716.8:c.136G>T MANE Select | ENSP00000377319.3:p.Asp46Tyr | |
| ENST00000466380.6:c.136G>T | ENSP00000420297.2:p.Asp46Tyr | |
| ENST00000648112.1:c.*159G>T | ENSP00000497876.1:n.*159G>T | |
| ENST00000337940.4:c.253G>T | ENSP00000336528.4:p.Asp85Tyr | |
| ENST00000393716.6:c.136G>T | ENSP00000377319.2:p.Asp46Tyr | |
| ENST00000466380.5:c.136G>T | ENSP00000420297.1:p.Asp46Tyr | |
| ENST00000474090.1:n.424G>T | ||
| NM_003889.3:c.136G>T | NP_003880.3:p.Asp46Tyr | |
| NM_022002.2:c.253G>T | NP_071285.1:p.Asp85Tyr | |
| NM_033013.2:c.136G>T | NP_148934.1:p.Asp46Tyr | |
| NM_003889.4:c.136G>T MANE Select | NP_003880.3:p.Asp46Tyr | |
| NM_022002.3:c.253G>T | NP_071285.1:p.Asp85Tyr | |
| NM_033013.3:c.136G>T | NP_148934.1:p.Asp46Tyr |