Linked Data
dbSNP Id:
rs1305058679
gnomAD v2:
12-116422176-A-T
gnomAD v3:
12-115984371-A-T
gnomAD v4:
12-115984371-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115984371A>T , CM000674.2:g.115984371A>T | GRCh38 |
| NC_000012.11:g.116422176A>T , CM000674.1:g.116422176A>T | GRCh37 |
| NC_000012.10:g.114906559A>T | NCBI36 |
| NG_023366.1:g.297816T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.4340T>A MANE Select | ENSP00000281928.3:p.Met1447Lys | |
| ENST00000549786.2:c.3768T>A | ||
| ENST00000648379.1:n.2708T>A | ||
| ENST00000648737.1:n.4104T>A | ||
| ENST00000648825.1:n.1080T>A | ||
| ENST00000648916.1:n.2351T>A | ||
| ENST00000649146.1:n.1070T>A | ||
| ENST00000649607.1:c.2524T>A | ||
| ENST00000649775.1:c.837T>A | ||
| ENST00000650091.1:n.2316T>A | ||
| ENST00000650226.1:c.4340T>A | ENSP00000496981.1:p.Met1447Lys | |
| ENST00000281928.7:c.4340T>A | ENSP00000281928.3:p.Met1447Lys | |
| NM_015335.4:c.4340T>A | NP_056150.1:p.Met1447Lys | |
| XM_011538080.1:c.4340T>A | XP_011536382.1:p.Met1447Lys | |
| XM_011538081.1:c.4337T>A | XP_011536383.1:p.Met1446Lys | |
| XM_011538082.1:c.4310T>A | XP_011536384.1:p.Met1437Lys | |
| XM_011538080.2:c.4340T>A | XP_011536382.1:p.Met1447Lys | |
| XM_011538081.2:c.4337T>A | XP_011536383.1:p.Met1446Lys | |
| XM_011538082.2:c.4310T>A | XP_011536384.1:p.Met1437Lys | |
| XM_017019090.1:c.4337T>A | XP_016874579.1:p.Met1446Lys | |
| NM_015335.5:c.4340T>A MANE Select | NP_056150.1:p.Met1447Lys |