Linked Data
ClinVar Variation Id:
907893
dbSNP Id:
rs751612997
ExAC:
6:33137252 G / A
gnomAD v2:
6-33137252-G-A
gnomAD v3:
6-33169475-G-A
gnomAD v4:
6-33169475-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33169475G>A , CM000668.2:g.33169475G>A | GRCh38 |
| NC_000006.11:g.33137252G>A , CM000668.1:g.33137252G>A | GRCh37 |
| NC_000006.10:g.33245230G>A | NCBI36 |
| NG_011589.1:g.27994C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.3706C>T MANE Select | ENSP00000339915.2:p.Arg1236Cys | |
| ENST00000341947.6:c.3706C>T | ENSP00000339915.2:p.Arg1236Cys | |
| ENST00000361917.5:c.3385C>T | ENSP00000355123.1:p.Arg1129Cys | |
| ENST00000374708.8:c.3448C>T | ENSP00000363840.4:p.Arg1150Cys | |
| ENST00000477772.1:n.273-3659C>T | ||
| NM_080679.2:c.3385C>T | NP_542410.2:p.Arg1129Cys | |
| NM_080680.2:c.3706C>T | NP_542411.2:p.Arg1236Cys | |
| NM_080681.2:c.3448C>T | NP_542412.2:p.Arg1150Cys | |
| XM_011514298.1:c.2860C>T | XP_011512600.1:p.Arg954Cys | |
| XM_011514299.1:c.2992C>T | XP_011512601.1:p.Arg998Cys | |
| XM_011514300.1:c.2812C>T | XP_011512602.1:p.Arg938Cys | |
| XM_011514301.1:c.2749C>T | XP_011512603.1:p.Arg917Cys | |
| XM_011514302.1:c.2593C>T | XP_011512604.1:p.Arg865Cys | |
| XM_011514299.2:c.2992C>T | XP_011512601.1:p.Arg998Cys | |
| XM_011514300.2:c.2812C>T | XP_011512602.1:p.Arg938Cys | |
| XM_011514302.2:c.2593C>T | XP_011512604.1:p.Arg865Cys | |
| XM_017010250.1:c.3706C>T | XP_016865739.1:p.Arg1236Cys | |
| XM_017010251.2:c.2524C>T | XP_016865740.1:p.Arg842Cys | |
| NM_080680.3:c.3706C>T MANE Select | NP_542411.2:p.Arg1236Cys | |
| NM_080681.3:c.3448C>T | NP_542412.2:p.Arg1150Cys | |
| NM_080679.3:c.3385C>T | NP_542410.2:p.Arg1129Cys |