Linked Data
ClinVar Variation Id:
1770518
ClinVar RCV Id:
RCV002387866
dbSNP Id:
rs1424487626
gnomAD v2:
5-13701399-C-T
gnomAD v3:
5-13701290-C-T
gnomAD v4:
5-13701290-C-T
COSMIC:
COSM1061162
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13701290C>T , CM000667.2:g.13701290C>T | GRCh38 |
| NC_000005.9:g.13701399C>T , CM000667.1:g.13701399C>T | GRCh37 |
| NC_000005.8:g.13754399C>T | NCBI36 |
| NG_013081.1:g.248191G>A | |
| NG_013081.2:g.248191G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.818G>A | ||
| ENST00000265104.5:c.13485G>A MANE Select | ENSP00000265104.4:p.Met4495Ile | |
| ENST00000681290.1:c.13440G>A | ENSP00000505288.1:p.Met4480Ile | |
| ENST00000265104.4:c.13485G>A | ENSP00000265104.4:p.Met4495Ile | |
| NM_001369.2:c.13485G>A | NP_001360.1:p.Met4495Ile | |
| XM_005248262.2:c.13440G>A | XP_005248319.1:p.Met4480Ile | |
| XM_005248262.3:c.13593G>A | XP_005248319.2:p.Met4531Ile | |
| XM_017009177.1:c.13173G>A | XP_016864666.1:p.Met4391Ile | |
| XM_017009178.1:c.12498G>A | XP_016864667.1:p.Met4166Ile | |
| XM_017009179.2:c.12498G>A | XP_016864668.1:p.Met4166Ile | |
| XM_017009185.1:c.8682G>A | XP_016864674.1:p.Met2894Ile | |
| XM_017009186.1:c.8235G>A | XP_016864675.1:p.Met2745Ile | |
| XM_017009188.1:c.7572G>A | XP_016864677.1:p.Met2524Ile | |
| XM_024454388.1:c.12498G>A | XP_024310156.1:p.Met4166Ile | |
| XM_024454389.1:c.12087G>A | XP_024310157.1:p.Met4029Ile | |
| NM_001369.3:c.13485G>A MANE Select | NP_001360.1:p.Met4495Ile |