Linked Data
ClinVar Variation Id:
198925
dbSNP Id:
rs761212213
ExAC:
X:17750488 G / C
gnomAD v2:
X-17750488-G-C
gnomAD v3:
X-17732368-G-C
gnomAD v4:
X-17732368-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.17732368G>C , CM000685.2:g.17732368G>C | GRCh38 |
| NC_000023.10:g.17750488G>C , CM000685.1:g.17750488G>C | GRCh37 |
| NC_000023.9:g.17660409G>C | NCBI36 |
| NG_011553.2:g.361949G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615422.2:n.5255G>C | ||
| ENST00000676302.1:c.4860G>C MANE Select | ENSP00000502262.1:p.Arg1620= | |
| ENST00000380060.7:c.4797G>C | ENSP00000369400.3:p.Arg1599= | |
| ENST00000398097.7:c.4329G>C | ENSP00000381170.3:p.Arg1443= | |
| ENST00000615422.1:c.4320G>C | ENSP00000480113.1:p.Arg1440= | |
| ENST00000617601.4:c.4248G>C | ENSP00000478433.1:p.Arg1416= | |
| NM_001136024.3:c.4329G>C | NP_001129496.1:p.Arg1443= | |
| NM_001291867.1:c.4860G>C | NP_001278796.1:p.Arg1620= | |
| NM_001291868.1:c.4266G>C | NP_001278797.1:p.Arg1422= | |
| NM_198270.3:c.4797G>C | NP_938011.1:p.Arg1599= | |
| XM_011545528.1:c.3912G>C | XP_011543830.1:p.Arg1304= | |
| XM_011545528.2:c.3912G>C | XP_011543830.1:p.Arg1304= | |
| NM_001136024.4:c.4329G>C | NP_001129496.1:p.Arg1443= | |
| NM_001291867.2:c.4860G>C MANE Select | NP_001278796.1:p.Arg1620= | |
| NM_001291868.2:c.4266G>C | NP_001278797.1:p.Arg1422= | |
| NM_198270.4:c.4797G>C | NP_938011.1:p.Arg1599= |