gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102998313A>G , CM000663.2:g.102998313A>G | GRCh38 |
| NC_000001.10:g.103463869A>G , CM000663.1:g.103463869A>G | GRCh37 |
| NC_000001.9:g.103236457A>G | NCBI36 |
| NG_008033.1:g.115184T>C | |
| NG_008033.2:g.115184T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.2193T>C MANE Select | ENSP00000359114.3:p.Pro731= | |
| ENST00000353414.8:c.2076T>C | ENSP00000302551.6:p.Pro692= | |
| ENST00000358392.6:c.2229T>C | ENSP00000351163.2:p.Pro743= | |
| ENST00000370096.7:c.2193T>C | ENSP00000359114.3:p.Pro731= | |
| ENST00000512756.5:c.1845T>C | ENSP00000426533.1:p.Pro615= | |
| ENST00000635193.1:c.1511T>C | ||
| NM_001190709.1:c.2076T>C | NP_001177638.1:p.Pro692= | |
| NM_001854.3:c.2193T>C | NP_001845.3:p.Pro731= | |
| NM_080629.2:c.2229T>C | NP_542196.2:p.Pro743= | |
| NM_080630.3:c.1845T>C | NP_542197.3:p.Pro615= | |
| XM_011540719.1:c.2193T>C | XP_011539021.1:p.Pro731= | |
| XM_011540720.1:c.426T>C | XP_011539022.1:p.Pro142= | |
| XM_011540721.1:c.-236T>C | XP_011539023.1:n.-236T>C | |
| XR_946545.1:n.2591T>C | ||
| NR_134980.1:n.2511T>C | ||
| XM_017000334.1:c.2346T>C | XP_016855823.1:p.Pro782= | |
| XM_017000335.1:c.2340T>C | XP_016855824.1:p.Pro780= | |
| XM_017000336.1:c.2346T>C | XP_016855825.1:p.Pro782= | |
| XM_017000337.1:c.744T>C | XP_016855826.1:p.Pro248= | |
| NM_001854.4:c.2193T>C MANE Select | NP_001845.3:p.Pro731= | |
| NM_080630.4:c.1845T>C | NP_542197.3:p.Pro615= | |
| NR_134980.2:n.2537T>C | ||
| NM_001190709.2:c.2076T>C | NP_001177638.1:p.Pro692= | |
| NM_080629.3:c.2229T>C | NP_542196.2:p.Pro743= |