Linked Data
dbSNP Id:
rs782098075
ExAC:
X:154065910 T / C
gnomAD v2:
X-154065910-T-C
gnomAD v4:
X-154837635-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154837635T>C , CM000685.2:g.154837635T>C | GRCh38 |
| NC_000023.10:g.154065910T>C , CM000685.1:g.154065910T>C | GRCh37 |
| NC_000023.9:g.153719104T>C | NCBI36 |
| NG_011403.1:g.190089A>G | |
| NG_033065.1:g.2028A>G | |
| NG_011403.2:g.190089A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.7018A>G MANE Select | ENSP00000353393.4:p.Met2340Val | |
| ENST00000644698.1:c.751A>G | ENSP00000495706.1:p.Met251Val | |
| ENST00000330287.10:c.613A>G | ENSP00000327895.6:p.Met205Val | |
| ENST00000360256.8:c.7018A>G | ENSP00000353393.4:p.Met2340Val | |
| NM_000132.3:c.7018A>G | NP_000123.1:p.Met2340Val | |
| NM_019863.2:c.613A>G | NP_063916.1:p.Met205Val | |
| XM_011531126.1:c.6913A>G | XP_011529428.1:p.Met2305Val | |
| NM_000132.4:c.7018A>G MANE Select | NP_000123.1:p.Met2340Val | |
| NM_019863.3:c.613A>G | NP_063916.1:p.Met205Val |