Linked Data
ClinVar Variation Id:
17129
dbSNP Id:
rs121912952
ExAC:
6:33145920 G / T
gnomAD v2:
6-33145920-G-T
gnomAD v3:
6-33178143-G-T
gnomAD v4:
6-33178143-G-T
COSMIC:
COSM6106849
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33178143G>T , CM000668.2:g.33178143G>T | GRCh38 |
| NC_000006.11:g.33145920G>T , CM000668.1:g.33145920G>T | GRCh37 |
| NC_000006.10:g.33253898G>T | NCBI36 |
| NG_011589.1:g.19326C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361917.6:c.445+165C>A | ||
| ENST00000341947.7:c.1861C>A MANE Select | ENSP00000339915.2:p.Pro621Thr | |
| ENST00000341947.6:c.1861C>A | ENSP00000339915.2:p.Pro621Thr | |
| ENST00000361917.5:c.1540C>A | ENSP00000355123.1:p.Pro514Thr | |
| ENST00000374708.8:c.1603C>A | ENSP00000363840.4:p.Pro535Thr | |
| ENST00000457788.5:c.1861C>A | ENSP00000405520.1:p.Pro621Thr | |
| NM_080679.2:c.1540C>A | NP_542410.2:p.Pro514Thr | |
| NM_080680.2:c.1861C>A | NP_542411.2:p.Pro621Thr | |
| NM_080681.2:c.1603C>A | NP_542412.2:p.Pro535Thr | |
| XM_011514298.1:c.1015C>A | XP_011512600.1:p.Pro339Thr | |
| XM_011514299.1:c.1147C>A | XP_011512601.1:p.Pro383Thr | |
| XM_011514300.1:c.967C>A | XP_011512602.1:p.Pro323Thr | |
| XM_011514301.1:c.904C>A | XP_011512603.1:p.Pro302Thr | |
| XM_011514302.1:c.748C>A | XP_011512604.1:p.Pro250Thr | |
| XM_011514299.2:c.1147C>A | XP_011512601.1:p.Pro383Thr | |
| XM_011514300.2:c.967C>A | XP_011512602.1:p.Pro323Thr | |
| XM_011514302.2:c.748C>A | XP_011512604.1:p.Pro250Thr | |
| XM_017010250.1:c.1861C>A | XP_016865739.1:p.Pro621Thr | |
| XM_017010251.2:c.679C>A | XP_016865740.1:p.Pro227Thr | |
| NM_080680.3:c.1861C>A MANE Select | NP_542411.2:p.Pro621Thr | |
| NM_080681.3:c.1603C>A | NP_542412.2:p.Pro535Thr | |
| NM_080679.3:c.1540C>A | NP_542410.2:p.Pro514Thr |