Linked Data
ClinVar Variation Id:
5382
ClinVar RCV Id:
RCV000005713
dbSNP Id:
rs80338879
ExAC:
7:100231138 A / T
gnomAD v2:
7-100231138-A-T
gnomAD v4:
7-100633515-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100633515A>T , CM000669.2:g.100633515A>T | GRCh38 |
| NC_000007.13:g.100231138A>T , CM000669.1:g.100231138A>T | GRCh37 |
| NC_000007.12:g.100069074A>T | NCBI36 |
| NG_007989.1:g.13036T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000223051.8:c.515T>A MANE Select | ENSP00000223051.3:p.Met172Lys | |
| ENST00000223051.7:c.515T>A | ENSP00000223051.3:p.Met172Lys | |
| ENST00000431692.5:c.515T>A | ENSP00000413905.1:p.Met172Lys | |
| ENST00000462107.1:c.515T>A | ENSP00000420525.1:p.Met172Lys | |
| ENST00000465294.5:n.520T>A | ||
| ENST00000475011.1:n.44T>A | ||
| ENST00000476304.5:n.136T>A | ||
| NM_001206855.1:c.2T>A | NP_001193784.1:p.Met1Lys | |
| NM_003227.3:c.515T>A | NP_003218.2:p.Met172Lys | |
| XM_005250553.3:c.515T>A | XP_005250610.1:p.Met172Lys | |
| XM_005250554.3:c.515T>A | XP_005250611.1:p.Met172Lys | |
| NM_001206855.2:c.2T>A | NP_001193784.1:p.Met1Lys | |
| XM_005250553.4:c.515T>A | XP_005250610.1:p.Met172Lys | |
| XM_017012573.1:c.515T>A | XP_016868062.1:p.Met172Lys | |
| NM_003227.4:c.515T>A MANE Select | NP_003218.2:p.Met172Lys | |
| NM_001206855.3:c.2T>A | NP_001193784.1:p.Met1Lys |