Linked Data
dbSNP Id:
rs782702543
ExAC:
X:54069156 G / A
gnomAD v2:
X-54069156-G-A
gnomAD v3:
X-54042723-G-A
gnomAD v4:
X-54042723-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54042723G>A , CM000685.2:g.54042723G>A | GRCh38 |
| NC_000023.10:g.54069156G>A , CM000685.1:g.54069156G>A | GRCh37 |
| NC_000023.9:g.54085881G>A | NCBI36 |
| NG_021309.1:g.7414C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338946.11:c.6C>T | ENSP00000340051.7:p.Ala2= | |
| ENST00000396282.7:c.6C>T | ENSP00000379578.3:p.Ala2= | |
| ENST00000686349.1:c.6C>T | ENSP00000510424.1:p.Ala2= | |
| ENST00000687764.1:c.6C>T | ENSP00000509967.1:p.Ala2= | |
| ENST00000338154.11:c.6C>T MANE Select | ENSP00000338868.6:p.Ala2= | |
| ENST00000322659.12:c.6C>T | ENSP00000319473.8:p.Ala2= | |
| ENST00000338154.10:c.6C>T | ENSP00000338868.6:p.Ala2= | |
| ENST00000338946.10:c.6C>T | ENSP00000340051.6:p.Ala2= | |
| ENST00000357988.9:c.114C>T | ENSP00000350676.5:p.Ala38= | |
| ENST00000415025.5:c.6C>T | ENSP00000404117.1:p.Ala2= | |
| ENST00000425862.5:c.6C>T | ENSP00000408113.1:p.Ala2= | |
| ENST00000433120.5:c.6C>T | ENSP00000410100.1:p.Ala2= | |
| ENST00000437224.5:c.6C>T | ENSP00000398995.1:p.Ala2= | |
| ENST00000445025.1:c.6C>T | ENSP00000416546.1:p.Ala2= | |
| ENST00000453905.5:c.114C>T | ENSP00000405897.1:p.Ala38= | |
| NM_001184896.1:c.114C>T | NP_001171825.1:p.Ala38= | |
| NM_001184897.1:c.6C>T | NP_001171826.1:p.Ala2= | |
| NM_001184898.1:c.6C>T | NP_001171827.1:p.Ala2= | |
| NM_015107.2:c.6C>T | NP_055922.1:p.Ala2= | |
| XM_005261996.1:c.114C>T | XP_005262053.1:p.Ala38= | |
| XM_005261997.2:c.6C>T | XP_005262054.1:p.Ala2= | |
| XM_005261999.1:c.6C>T | XP_005262056.1:p.Ala2= | |
| XM_005262000.1:c.114C>T | XP_005262057.1:p.Ala38= | |
| XM_006724585.1:c.114C>T | XP_006724648.1:p.Ala38= | |
| XM_011530778.1:c.114C>T | XP_011529080.1:p.Ala38= | |
| XM_005261997.4:c.6C>T | XP_005262054.1:p.Ala2= | |
| XM_017029361.2:c.6C>T | XP_016884850.1:p.Ala2= | |
| XM_017029362.2:c.6C>T | XP_016884851.1:p.Ala2= | |
| NM_001184898.2:c.6C>T | NP_001171827.1:p.Ala2= | |
| NM_015107.3:c.6C>T MANE Select | NP_055922.1:p.Ala2= | |
| NM_001184897.2:c.6C>T | NP_001171826.1:p.Ala2= |