Linked Data
dbSNP Id:
rs782684613
ExAC:
X:49108209 T / C
gnomAD v2:
X-49108209-T-C
gnomAD v3:
X-49251748-T-C
gnomAD v4:
X-49251748-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49251748T>C , CM000685.2:g.49251748T>C | GRCh38 |
| NC_000023.10:g.49108209T>C , CM000685.1:g.49108209T>C | GRCh37 |
| NC_000023.9:g.48995153T>C | NCBI36 |
| NG_007392.1:g.18080A>G , LRG_62:g.18080A>G | |
| NG_021311.2:g.21284T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376199.7:c.957A>G | ENSP00000365372.2:p.Pro319= | |
| ENST00000376207.10:c.1062A>G MANE Select | ENSP00000365380.4:p.Pro354= | |
| ENST00000455775.7:c.1131A>G | ENSP00000396415.3:p.Pro377= | |
| ENST00000518685.6:c.981A>G | ENSP00000428952.2:p.Pro327= | |
| ENST00000557224.6:c.957A>G | ENSP00000451208.1:p.Pro319= | |
| ENST00000651307.1:c.985A>G | ENSP00000498454.1:p.Arg329Gly | |
| ENST00000376197.1:c.912A>G | ENSP00000365369.1:p.Pro304= | |
| ENST00000376199.6:c.957A>G | ENSP00000365372.2:p.Pro319= | |
| ENST00000376207.8:c.1062A>G | ENSP00000365380.4:p.Pro354= | |
| ENST00000455775.6:c.1131A>G | ENSP00000396415.3:p.Pro377= | |
| ENST00000518685.5:c.957A>G | ENSP00000428952.1:p.Pro319= | |
| ENST00000557224.5:c.957A>G | ENSP00000451208.1:p.Pro319= | |
| NM_001114377.1:c.957A>G | NP_001107849.1:p.Pro319= | |
| NM_014009.3:c.1062A>G , LRG_62t1:c.1062A>G | NP_054728.2:p.Pro354= | |
| XM_006724533.2:c.1131A>G | XP_006724596.2:p.Pro377= | |
| XM_011543915.1:c.1281A>G | XP_011542217.1:p.Pro427= | |
| XM_011543916.1:c.1281A>G | XP_011542218.1:p.Pro427= | |
| XM_011543917.1:c.1080A>G | XP_011542219.1:p.Pro360= | |
| XM_011543918.1:c.1317A>G | XP_011542220.1:p.Pro439= | |
| XM_011543919.1:c.1281A>G | XP_011542221.1:p.Pro427= | |
| XM_017029567.1:c.1008A>G | XP_016885056.1:p.Pro336= | |
| NM_001114377.2:c.957A>G | NP_001107849.1:p.Pro319= | |
| NM_014009.4:c.1062A>G MANE Select | NP_054728.2:p.Pro354= |