ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157198907G>A , CM000668.2:g.157198907G>A | GRCh38 |
| NC_000006.11:g.157520041G>A , CM000668.1:g.157520041G>A | GRCh37 |
| NC_000006.10:g.157561733G>A | NCBI36 |
| NG_032093.1:g.425978G>A | |
| NG_032093.2:g.425978G>A | |
| NG_066624.1:g.427882G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.4320G>A | ENSP00000055163.8:p.Pro1440= | |
| ENST00000414678.8:c.4389G>A | ENSP00000412835.3:p.Pro1463= | |
| ENST00000637015.2:c.4608G>A | ENSP00000489729.2:p.Pro1536= | |
| ENST00000346085.10:c.4359G>A | ENSP00000344546.5:p.Pro1453= | |
| ENST00000350026.10:c.4071G>A | ENSP00000055163.7:p.Pro1357= | |
| ENST00000414678.7:c.2637G>A | ENSP00000412835.2:p.Pro879= | |
| ENST00000635849.1:c.1800G>A | ENSP00000490948.1:p.Pro600= | |
| ENST00000635957.1:c.1431G>A | ENSP00000490385.1:p.Pro477= | |
| ENST00000636227.1:n.2942G>A | ||
| ENST00000636254.1:n.399G>A | ||
| ENST00000636930.2:c.4479G>A MANE Select | ENSP00000490491.2:p.Pro1493= | |
| ENST00000636940.1:n.2476G>A | ||
| ENST00000637015.1:c.1847G>A | ||
| ENST00000637568.1:c.1761G>A | ||
| ENST00000637741.1:n.1145G>A | ||
| ENST00000637810.1:c.1821G>A | ENSP00000489636.1:p.Pro607= | |
| ENST00000637904.1:c.1980G>A | ENSP00000490550.1:p.Pro660= | |
| ENST00000647938.1:c.4110G>A | ENSP00000498155.1:p.Pro1370= | |
| ENST00000346085.9:c.4110G>A | ENSP00000344546.4:p.Pro1370= | |
| ENST00000350026.9:c.4071G>A | ENSP00000055163.7:p.Pro1357= | |
| ENST00000414678.6:c.2637G>A | ENSP00000412835.2:p.Pro879= | |
| NM_017519.2:c.4071G>A | NP_059989.2:p.Pro1357= | |
| NM_020732.3:c.4110G>A | NP_065783.3:p.Pro1370= | |
| XM_005267069.3:c.4230G>A | XP_005267126.2:p.Pro1410= | |
| XM_011535984.1:c.3309G>A | XP_011534286.1:p.Pro1103= | |
| XM_011535985.1:c.3129G>A | XP_011534287.1:p.Pro1043= | |
| XM_011535986.1:c.2889G>A | XP_011534288.1:p.Pro963= | |
| XM_011535987.1:c.2508G>A | XP_011534289.1:p.Pro836= | |
| XM_011535988.1:c.1371G>A | XP_011534290.1:p.Pro457= | |
| NM_001346813.1:c.4230G>A | NP_001333742.1:p.Pro1410= | |
| NM_001363725.1:c.1980G>A | NP_001350654.1:p.Pro660= | |
| XM_011535984.2:c.4440G>A | XP_011534286.2:p.Pro1480= | |
| XM_011535988.3:c.1371G>A | XP_011534290.1:p.Pro457= | |
| XM_017011103.2:c.4341G>A | XP_016866592.1:p.Pro1447= | |
| XM_017011104.1:c.4311G>A | XP_016866593.1:p.Pro1437= | |
| XM_017011105.2:c.4281G>A | XP_016866594.1:p.Pro1427= | |
| XM_017011106.2:c.4152G>A | XP_016866595.1:p.Pro1384= | |
| XM_017011107.2:c.4131G>A | XP_016866596.1:p.Pro1377= | |
| XR_002956289.1:n.4427-1798G>A | ||
| NM_001363725.2:c.1980G>A | NP_001350654.1:p.Pro660= | |
| NM_001371656.1:c.4359G>A | NP_001358585.1:p.Pro1453= | |
| NM_001374820.1:c.4359G>A | NP_001361749.1:p.Pro1453= | |
| NM_001374828.1:c.4479G>A MANE Select | NP_001361757.1:p.Pro1493= | |
| NM_017519.3:c.4320G>A | NP_059989.3:p.Pro1440= |