Linked Data
ClinVar Variation Id:
17121
dbSNP Id:
rs121912945
gnomAD v2:
6-33144993-C-T
gnomAD v4:
6-33177216-C-T
PubMed:
PMID:9188673
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33177216C>T , CM000668.2:g.33177216C>T | GRCh38 |
| NC_000006.11:g.33144993C>T , CM000668.1:g.33144993C>T | GRCh37 |
| NC_000006.10:g.33252971C>T | NCBI36 |
| NG_011589.1:g.20253G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361917.6:c.554G>A | ||
| ENST00000341947.7:c.1981G>A MANE Select | ENSP00000339915.2:p.Gly661Arg | |
| ENST00000341947.6:c.1981G>A | ENSP00000339915.2:p.Gly661Arg | |
| ENST00000361917.5:c.1660G>A | ENSP00000355123.1:p.Gly554Arg | |
| ENST00000374708.8:c.1723G>A | ENSP00000363840.4:p.Gly575Arg | |
| ENST00000477772.1:n.200G>A | ||
| NM_080679.2:c.1660G>A | NP_542410.2:p.Gly554Arg | |
| NM_080680.2:c.1981G>A | NP_542411.2:p.Gly661Arg | |
| NM_080681.2:c.1723G>A | NP_542412.2:p.Gly575Arg | |
| XM_011514298.1:c.1135G>A | XP_011512600.1:p.Gly379Arg | |
| XM_011514299.1:c.1267G>A | XP_011512601.1:p.Gly423Arg | |
| XM_011514300.1:c.1087G>A | XP_011512602.1:p.Gly363Arg | |
| XM_011514301.1:c.1024G>A | XP_011512603.1:p.Gly342Arg | |
| XM_011514302.1:c.868G>A | XP_011512604.1:p.Gly290Arg | |
| XM_011514299.2:c.1267G>A | XP_011512601.1:p.Gly423Arg | |
| XM_011514300.2:c.1087G>A | XP_011512602.1:p.Gly363Arg | |
| XM_011514302.2:c.868G>A | XP_011512604.1:p.Gly290Arg | |
| XM_017010250.1:c.1981G>A | XP_016865739.1:p.Gly661Arg | |
| XM_017010251.2:c.799G>A | XP_016865740.1:p.Gly267Arg | |
| NM_080680.3:c.1981G>A MANE Select | NP_542411.2:p.Gly661Arg | |
| NM_080681.3:c.1723G>A | NP_542412.2:p.Gly575Arg | |
| NM_080679.3:c.1660G>A | NP_542410.2:p.Gly554Arg |