Linked Data
dbSNP Id:
rs570601277
ExAC:
12:121756378 C / T
gnomAD v2:
12-121756378-C-T
gnomAD v3:
12-121318575-C-T
gnomAD v4:
12-121318575-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121318575C>T , CM000674.2:g.121318575C>T | GRCh38 |
| NC_000012.11:g.121756378C>T , CM000674.1:g.121756378C>T | GRCh37 |
| NC_000012.10:g.120240761C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261819.8:c.1671G>A MANE Select | ENSP00000261819.3:p.Met557Ile | |
| ENST00000261819.7:c.1671G>A | ENSP00000261819.3:p.Met557Ile | |
| ENST00000366333.3:n.883G>A | ||
| ENST00000441917.6:c.1335G>A | ENSP00000415061.2:p.Met445Ile | |
| ENST00000534976.5:n.2327G>A | ||
| ENST00000535482.1:c.669G>A | ENSP00000438754.1:p.Met223Ile | |
| ENST00000535641.5:n.1882G>A | ||
| ENST00000539079.5:c.1015G>A | ||
| ENST00000541887.5:c.1632G>A | ENSP00000439875.1:p.Met544Ile | |
| ENST00000544314.5:n.789G>A | ||
| ENST00000545218.5:n.914G>A | ||
| NM_001137559.1:c.1335G>A | NP_001131031.1:p.Met445Ile | |
| NM_016237.4:c.1671G>A | NP_057321.2:p.Met557Ile | |
| XM_005253900.2:c.1632G>A | XP_005253957.1:p.Met544Ile | |
| XM_006719449.1:c.477G>A | XP_006719512.1:p.Met159Ile | |
| NM_001330489.1:c.1632G>A | NP_001317418.1:p.Met544Ile | |
| XM_017019423.2:c.477G>A | XP_016874912.1:p.Met159Ile | |
| XM_017019424.2:c.477G>A | XP_016874913.1:p.Met159Ile | |
| NM_016237.5:c.1671G>A MANE Select | NP_057321.2:p.Met557Ile | |
| NM_001330489.2:c.1632G>A | NP_001317418.1:p.Met544Ile |