Linked Data
dbSNP Id:
rs1034485679
gnomAD v2:
X-54011645-A-G
gnomAD v3:
X-53985212-A-G
gnomAD v4:
X-53985212-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53985212A>G , CM000685.2:g.53985212A>G | GRCh38 |
| NC_000023.10:g.54011645A>G , CM000685.1:g.54011645A>G | GRCh37 |
| NC_000023.9:g.54028370A>G | NCBI36 |
| NG_021309.1:g.64925T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338946.11:c.1842T>C | ENSP00000340051.7:p.Ser614= | |
| ENST00000396282.7:c.2145T>C | ENSP00000379578.3:p.Ser715= | |
| ENST00000686349.1:c.*600T>C | ENSP00000510424.1:n.*600T>C | |
| ENST00000687764.1:c.*1587T>C | ENSP00000509967.1:n.*1587T>C | |
| ENST00000691629.1:n.1509T>C | ||
| ENST00000338154.11:c.2145T>C MANE Select | ENSP00000338868.6:p.Ser715= | |
| ENST00000322659.12:c.2094T>C | ENSP00000319473.8:p.Ser698= | |
| ENST00000338154.10:c.2145T>C | ENSP00000338868.6:p.Ser715= | |
| ENST00000338946.10:c.1842T>C | ENSP00000340051.6:p.Ser614= | |
| ENST00000357988.9:c.2253T>C | ENSP00000350676.5:p.Ser751= | |
| ENST00000396282.6:c.1856T>C | ||
| ENST00000443302.5:c.1435T>C | ||
| ENST00000615775.4:c.572T>C | ENSP00000482159.1:p.Leu191Pro | |
| NM_001184896.1:c.2253T>C | NP_001171825.1:p.Ser751= | |
| NM_001184897.1:c.1842T>C | NP_001171826.1:p.Ser614= | |
| NM_001184898.1:c.2094T>C | NP_001171827.1:p.Ser698= | |
| NM_015107.2:c.2145T>C | NP_055922.1:p.Ser715= | |
| XM_005261996.1:c.2253T>C | XP_005262053.1:p.Ser751= | |
| XM_005261997.2:c.2145T>C | XP_005262054.1:p.Ser715= | |
| XM_005261999.1:c.2145T>C | XP_005262056.1:p.Ser715= | |
| XM_005262000.1:c.1950T>C | XP_005262057.1:p.Ser650= | |
| XM_006724585.1:c.2253T>C | XP_006724648.1:p.Ser751= | |
| XM_011530778.1:c.2253T>C | XP_011529080.1:p.Ser751= | |
| XM_005261997.4:c.2145T>C | XP_005262054.1:p.Ser715= | |
| XM_017029361.2:c.2145T>C | XP_016884850.1:p.Ser715= | |
| XM_017029362.2:c.2145T>C | XP_016884851.1:p.Ser715= | |
| NM_001184898.2:c.2094T>C | NP_001171827.1:p.Ser698= | |
| NM_015107.3:c.2145T>C MANE Select | NP_055922.1:p.Ser715= | |
| NM_001184897.2:c.1842T>C | NP_001171826.1:p.Ser614= |