Linked Data
dbSNP Id:
rs772800110
ExAC:
X:19380955 G / A
gnomAD v2:
X-19380955-G-A
gnomAD v3:
X-19362837-G-A
gnomAD v4:
X-19362837-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19362837G>A , CM000685.2:g.19362837G>A | GRCh38 |
| NC_000023.10:g.19380955G>A , CM000685.1:g.19380955G>A | GRCh37 |
| NC_000023.9:g.19290876G>A | NCBI36 |
| NG_016781.1:g.23945G>A | |
| NG_021184.1:g.157425C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338883.9:c.3580C>T MANE Select | ENSP00000345629.4:p.Leu1194= | |
| ENST00000338883.8:c.3580C>T | ENSP00000345629.4:p.Leu1194= | |
| ENST00000359173.7:c.2908C>T | ||
| ENST00000470101.1:n.998C>T | ||
| ENST00000518578.5:n.3642C>T | ||
| NM_001001671.3:c.3580C>T | NP_001001671.3:p.Leu1194= | |
| XM_011545507.1:c.3235C>T | XP_011543809.1:p.Leu1079= | |
| XM_011545508.1:c.3148C>T | XP_011543810.1:p.Leu1050= | |
| XM_011545509.1:c.2545C>T | XP_011543811.1:p.Leu849= | |
| XM_011545510.1:c.2254C>T | XP_011543812.1:p.Leu752= | |
| XM_011545511.1:c.1885C>T | XP_011543813.1:p.Leu629= | |
| XM_011545507.3:c.3235C>T | XP_011543809.3:p.Leu1079= | |
| XM_011545508.3:c.3148C>T | XP_011543810.3:p.Leu1050= | |
| XM_011545510.2:c.2254C>T | XP_011543812.1:p.Leu752= | |
| XM_011545511.2:c.1885C>T | XP_011543813.1:p.Leu629= | |
| NM_001001671.4:c.3580C>T MANE Select | NP_001001671.3:p.Leu1194= |