Linked Data
ClinVar Variation Id:
866215
dbSNP Id:
rs142934552
ExAC:
5:149265830 C / T
gnomAD v2:
5-149265830-C-T
gnomAD v3:
5-149886267-C-T
gnomAD v4:
5-149886267-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149886267C>T , CM000667.2:g.149886267C>T | GRCh38 |
| NC_000005.9:g.149265830C>T , CM000667.1:g.149265830C>T | GRCh37 |
| NC_000005.8:g.149246023C>T | NCBI36 |
| NG_009102.1:g.63527G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255266.10:c.1836G>A MANE Select | ENSP00000255266.5:p.Met612Ile | |
| ENST00000255266.9:c.1836G>A | ENSP00000255266.5:p.Met612Ile | |
| ENST00000508173.5:n.2020G>A | ||
| ENST00000613228.1:c.1593G>A | ENSP00000478060.1:p.Met531Ile | |
| ENST00000617647.4:c.1593G>A | ENSP00000482774.1:p.Met531Ile | |
| NM_000440.2:c.1836G>A | NP_000431.2:p.Met612Ile | |
| XM_011537648.1:c.1836G>A | XP_011535950.1:p.Met612Ile | |
| XM_011537649.1:c.1290G>A | XP_011535951.1:p.Met430Ile | |
| XM_011537650.1:c.951G>A | XP_011535952.1:p.Met317Ile | |
| XM_011537651.1:c.789G>A | XP_011535953.1:p.Met263Ile | |
| XM_011537652.1:c.759G>A | XP_011535954.1:p.Met253Ile | |
| XM_011537653.1:c.759G>A | XP_011535955.1:p.Met253Ile | |
| XM_011537654.1:c.759G>A | XP_011535956.1:p.Met253Ile | |
| XM_011537650.2:c.951G>A | XP_011535952.1:p.Met317Ile | |
| XM_011537651.2:c.789G>A | XP_011535953.1:p.Met263Ile | |
| XM_011537653.2:c.759G>A | XP_011535955.1:p.Met253Ile | |
| XM_011537654.2:c.759G>A | XP_011535956.1:p.Met253Ile | |
| XM_017009572.2:c.1593G>A | XP_016865061.1:p.Met531Ile | |
| NM_000440.3:c.1836G>A MANE Select | NP_000431.2:p.Met612Ile |