Linked Data
dbSNP Id:
rs752262357
ExAC:
3:128780778 G / A
gnomAD v2:
3-128780778-G-A
gnomAD v3:
3-129061935-G-A
gnomAD v4:
3-129061935-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129061935G>A , CM000665.2:g.129061935G>A | GRCh38 |
| NC_000003.11:g.128780778G>A , CM000665.1:g.128780778G>A | GRCh37 |
| NC_000003.10:g.130263468G>A | NCBI36 |
| NG_008715.1:g.6134G>A , LRG_477:g.6134G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307395.5:c.196G>A MANE Select | ENSP00000303942.4:p.Val66Met | |
| ENST00000307395.4:c.196G>A | ENSP00000303942.4:p.Val66Met | |
| NM_000174.4:c.196G>A , LRG_477t1:c.196G>A | NP_000165.1:p.Val66Met | |
| XM_005247374.3:c.196G>A | XP_005247431.1:p.Val66Met | |
| XM_011512701.1:c.196G>A | XP_011511003.1:p.Val66Met | |
| XM_011512702.1:c.196G>A | XP_011511004.1:p.Val66Met | |
| NM_000174.5:c.196G>A MANE Select | NP_000165.1:p.Val66Met |