Linked Data
ClinVar Variation Id:
350098
dbSNP Id:
rs17016074
gnomAD v2:
4-90647278-G-A
gnomAD v3:
4-89726127-G-A
gnomAD v4:
4-89726127-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.89726127G>A , CM000666.2:g.89726127G>A | GRCh38 |
| NC_000004.11:g.90647278G>A , CM000666.1:g.90647278G>A | GRCh37 |
| NC_000004.10:g.90866301G>A | NCBI36 |
| NG_011851.1:g.117170C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394991.8:c.*501C>T MANE Select | ENSP00000378442.4:n.*501C>T | |
| ENST00000673718.1:c.*501C>T | ENSP00000500990.1:n.*501C>T | |
| ENST00000673766.1:n.1179C>T | ||
| ENST00000673902.1:c.390+3067C>T | ENSP00000501102.1:n.390+3067C>T | |
| ENST00000674129.1:c.*501C>T | ENSP00000501269.1:n.*501C>T | |
| ENST00000336904.7:c.*501C>T | ENSP00000338345.3:n.*501C>T | |
| ENST00000345009.8:c.*501C>T | ENSP00000343683.4:n.*501C>T | |
| ENST00000394986.5:c.*501C>T | ENSP00000378437.1:n.*501C>T | |
| ENST00000394989.6:c.*501C>T | ENSP00000378440.2:n.*501C>T | |
| ENST00000394991.7:c.*501C>T | ENSP00000378442.3:n.*501C>T | |
| ENST00000420646.6:c.*501C>T | ENSP00000396241.2:n.*501C>T | |
| ENST00000618500.4:c.*501C>T | ENSP00000484044.1:n.*501C>T | |
| NM_000345.3:c.*501C>T | NP_000336.1:n.*501C>T | |
| NM_001146054.1:c.*501C>T | NP_001139526.1:n.*501C>T | |
| NM_001146055.1:c.*501C>T | NP_001139527.1:n.*501C>T | |
| NM_007308.2:c.*501C>T | NP_009292.1:n.*501C>T | |
| XM_011532208.1:c.*501C>T | XP_011530510.1:n.*501C>T | |
| XM_011532208.2:c.*501C>T | XP_011530510.1:n.*501C>T | |
| XM_017008562.1:c.*501C>T | XP_016864051.1:n.*501C>T | |
| XM_017008563.1:c.*501C>T | XP_016864052.1:n.*501C>T | |
| NM_000345.4:c.*501C>T MANE Select | NP_000336.1:n.*501C>T | |
| NM_001146054.2:c.*501C>T | NP_001139526.1:n.*501C>T | |
| NM_001146055.2:c.*501C>T | NP_001139527.1:n.*501C>T | |
| NM_001375285.1:c.*501C>T | NP_001362214.1:n.*501C>T | |
| NM_001375286.1:c.*501C>T | NP_001362215.1:n.*501C>T | |
| NM_001375287.1:c.*501C>T | NP_001362216.1:n.*501C>T | |
| NM_001375288.1:c.*501C>T | NP_001362217.1:n.*501C>T | |
| NM_001375290.1:c.*501C>T | NP_001362219.1:n.*501C>T | |
| NR_164674.1:n.1002C>T | ||
| NR_164675.1:n.1149C>T | ||
| NR_164676.1:n.1222C>T | ||
| NM_007308.3:c.*501C>T | NP_009292.1:n.*501C>T |