Linked Data
ClinVar Variation Id:
246359
ClinVar RCV Id:
RCV000236991
dbSNP Id:
rs879254222
gnomAD v2:
1-6528048-C-A
gnomAD v4:
1-6467988-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6467988C>A , CM000663.2:g.6467988C>A | GRCh38 |
| NC_000001.10:g.6528048C>A , CM000663.1:g.6528048C>A | GRCh37 |
| NC_000001.9:g.6450635C>A | NCBI36 |
| NG_007978.1:g.57022G>T , LRG_262:g.57022G>T | |
| NG_029910.1:g.3208G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340850.10:c.2848G>T | ENSP00000344570.5:p.Ala950Ser | |
| ENST00000377728.8:c.2848G>T MANE Select | ENSP00000366957.3:p.Ala950Ser | |
| ENST00000377740.5:c.2848G>T | ENSP00000366969.4:p.Ala950Ser | |
| ENST00000377748.6:c.3022G>T | ENSP00000366977.2:p.Ala1008Ser | |
| ENST00000400913.6:c.2848G>T | ENSP00000383704.1:p.Ala950Ser | |
| ENST00000400915.8:c.2959G>T | ENSP00000383706.4:p.Ala987Ser | |
| ENST00000489097.6:n.3324G>T | ||
| ENST00000535355.6:c.3055G>T | ENSP00000441445.1:p.Ala1019Ser | |
| ENST00000537245.6:c.2959G>T | ENSP00000439625.2:p.Ala987Ser | |
| ENST00000673471.2:c.3145G>T | ENSP00000500749.1:p.Ala1049Ser | |
| ENST00000674790.1:c.*3060G>T | ENSP00000502815.1:n.*3060G>T | |
| ENST00000675123.1:c.2250-95G>T | ENSP00000502132.1:n.2250-95G>T | |
| ENST00000675548.1:c.*2676G>T | ENSP00000502684.1:n.*2676G>T | |
| ENST00000675694.1:c.2848G>T | ENSP00000501925.1:p.Ala950Ser | |
| ENST00000675976.1:c.721G>T | ENSP00000501611.1:p.Ala241Ser | |
| ENST00000340850.9:c.2848G>T | ENSP00000344570.5:p.Ala950Ser | |
| ENST00000377725.5:c.2738-90G>T | ENSP00000366954.1:n.2738-90G>T | |
| ENST00000377728.7:c.2848G>T | ENSP00000366957.3:p.Ala950Ser | |
| ENST00000377732.5:c.2959G>T | ENSP00000366961.1:p.Ala987Ser | |
| ENST00000377740.4:c.2481-95G>T | ENSP00000366969.3:n.2481-95G>T | |
| ENST00000377748.5:c.3079G>T | ENSP00000366977.1:p.Ala1027Ser | |
| ENST00000400913.5:c.2848G>T | ENSP00000383704.1:p.Ala950Ser | |
| ENST00000400915.7:c.3016G>T | ENSP00000383706.3:p.Ala1006Ser | |
| ENST00000487949.4:n.2050G>T | ||
| ENST00000489097.5:n.3324G>T | ||
| ENST00000535355.5:c.3055G>T | ENSP00000441445.1:p.Ala1019Ser | |
| ENST00000537245.5:c.3085G>T | ENSP00000439625.1:p.Ala1029Ser | |
| NM_001042663.1:c.3016G>T | NP_001036128.1:p.Ala1006Ser | |
| NM_001042664.1:c.2848G>T | NP_001036129.1:p.Ala950Ser | |
| NM_001042665.1:c.2848G>T | NP_001036130.1:p.Ala950Ser | |
| NM_001265592.1:c.3085G>T | NP_001252521.1:p.Ala1029Ser | |
| NM_001265593.1:c.3055G>T | NP_001252522.1:p.Ala1019Ser | |
| NM_001265594.1:c.2738-90G>T | NP_001252523.1:n.2738-90G>T | |
| NM_020631.4:c.2848G>T | NP_065682.2:p.Ala950Ser | |
| NM_198681.3:c.3079G>T | NP_941374.2:p.Ala1027Ser | |
| NM_001042663.2:c.3016G>T | NP_001036128.1:p.Ala1006Ser | |
| NM_001265594.2:c.2738-90G>T | NP_001252523.1:n.2738-90G>T | |
| NM_020631.5:c.2848G>T | NP_065682.2:p.Ala950Ser | |
| NM_001042663.3:c.2959G>T | NP_001036128.2:p.Ala987Ser | |
| NM_001265592.2:c.2959G>T | NP_001252521.2:p.Ala987Ser | |
| NM_020631.6:c.2848G>T MANE Select | NP_065682.2:p.Ala950Ser | |
| NM_198681.4:c.2848G>T | NP_941374.3:p.Ala950Ser |