ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71807639G>A , CM000672.2:g.71807639G>A | GRCh38 |
| NC_000010.10:g.73567396G>A , CM000672.1:g.73567396G>A | GRCh37 |
| NC_000010.9:g.73237402G>A | NCBI36 |
| NG_008835.1:g.415693G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.8432G>A MANE Select | ENSP00000224721.9:p.Trp2811Ter | |
| ENST00000642965.1:c.2365G>A | ENSP00000495222.1:n.2365G>A | |
| ENST00000647092.1:c.2029G>A | ENSP00000495176.1:n.2029G>A | |
| ENST00000224721.10:c.8447G>A | ENSP00000224721.8:p.Trp2816Ter | |
| ENST00000398788.4:c.1712G>A | ENSP00000381768.3:p.Trp571Ter | |
| ENST00000475158.1:n.1968G>A | ||
| ENST00000619887.4:c.1712G>A | ENSP00000478374.1:p.Trp571Ter | |
| ENST00000622827.4:c.8432G>A | ENSP00000483211.1:p.Trp2811Ter | |
| NM_001171933.1:c.1712G>A | NP_001165404.1:p.Trp571Ter | |
| NM_001171934.1:c.1712G>A | NP_001165405.1:p.Trp571Ter | |
| NM_022124.5:c.8432G>A | NP_071407.4:p.Trp2811Ter | |
| XM_006717940.2:c.8627G>A | XP_006718003.1:p.Trp2876Ter | |
| XM_006717942.2:c.8561G>A | XP_006718005.1:p.Trp2854Ter | |
| XM_011540039.1:c.8624G>A | XP_011538341.1:p.Trp2875Ter | |
| XM_011540040.1:c.8621G>A | XP_011538342.1:p.Trp2874Ter | |
| XM_011540041.1:c.8567G>A | XP_011538343.1:p.Trp2856Ter | |
| XM_011540042.1:c.8537G>A | XP_011538344.1:p.Trp2846Ter | |
| XM_011540043.1:c.8627G>A | XP_011538345.1:p.Trp2876Ter | |
| XM_011540044.1:c.8492G>A | XP_011538346.1:p.Trp2831Ter | |
| XM_011540045.1:c.8627G>A | XP_011538347.1:p.Trp2876Ter | |
| XM_011540046.1:c.8087G>A | XP_011538348.1:p.Trp2696Ter | |
| XM_011540047.1:c.7445G>A | XP_011538349.1:p.Trp2482Ter | |
| XM_011540052.1:c.4955G>A | XP_011538354.1:p.Trp1652Ter | |
| NM_022124.6:c.8432G>A MANE Select | NP_071407.4:p.Trp2811Ter |