Linked Data
ClinVar Variation Id:
380805
dbSNP Id:
rs2229944
ExAC:
5:160721319 G / A
gnomAD v2:
5-160721319-G-A
gnomAD v3:
5-161294312-G-A
gnomAD v4:
5-161294312-G-A
PubMed:
PMID:12140781
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.161294312G>A , CM000667.2:g.161294312G>A | GRCh38 |
| NC_000005.9:g.160721319G>A , CM000667.1:g.160721319G>A | GRCh37 |
| NC_000005.8:g.160653897G>A | NCBI36 |
| NG_047050.1:g.258813C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274547.7:c.1308C>T | ENSP00000274547.2:p.Ala436= | |
| ENST00000393959.6:c.1308C>T MANE Select | ENSP00000377531.1:p.Ala436= | |
| ENST00000675081.1:c.*653C>T | ENSP00000502207.1:n.*653C>T | |
| ENST00000675303.1:c.1194C>T | ENSP00000502748.1:p.Ala398= | |
| ENST00000675381.1:c.942C>T | ENSP00000501968.1:p.Ala314= | |
| ENST00000675746.1:c.444C>T | ENSP00000502391.1:p.Ala148= | |
| ENST00000675773.1:c.1194C>T | ENSP00000502701.1:p.Ala398= | |
| ENST00000274547.6:c.1308C>T | ENSP00000274547.2:p.Ala436= | |
| ENST00000353437.10:c.1194C>T | ENSP00000274546.6:p.Ala398= | |
| ENST00000393959.5:c.1308C>T | ENSP00000377531.1:p.Ala436= | |
| ENST00000517547.5:c.714C>T | ENSP00000429750.1:p.Ala238= | |
| ENST00000517901.5:c.1005C>T | ENSP00000430532.1:p.Ala335= | |
| ENST00000520240.5:c.1194C>T | ENSP00000429320.1:p.Ala398= | |
| NM_000813.2:c.1194C>T | NP_000804.1:p.Ala398= | |
| NM_021911.2:c.1308C>T | NP_068711.1:p.Ala436= | |
| XM_011534501.1:c.558C>T | XP_011532803.1:p.Ala186= | |
| NM_000813.3:c.1194C>T | NP_000804.1:p.Ala398= | |
| NM_001371727.1:c.1308C>T MANE Select | NP_001358656.1:p.Ala436= | |
| NM_021911.3:c.1308C>T | NP_068711.1:p.Ala436= |