Linked Data
dbSNP Id:
rs1214679081
gnomAD v2:
X-153135892-C-G
gnomAD v3:
X-153870437-C-G
gnomAD v4:
X-153870437-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153870437C>G , CM000685.2:g.153870437C>G | GRCh38 |
| NC_000023.10:g.153135892C>G , CM000685.1:g.153135892C>G | GRCh37 |
| NC_000023.9:g.152789086C>G | NCBI36 |
| NG_009645.3:g.43787G>C | |
| NG_009645.4:g.20737G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370060.7:c.757G>C MANE Select | ENSP00000359077.1:p.Val253Leu | |
| ENST00000361699.8:c.757G>C | ENSP00000355380.4:p.Val253Leu | |
| ENST00000361981.7:c.742G>C | ENSP00000354712.3:p.Val248Leu | |
| ENST00000370055.5:c.742G>C | ENSP00000359072.1:p.Val248Leu | |
| ENST00000370060.5:c.757G>C | ENSP00000359077.1:p.Val253Leu | |
| NM_000425.4:c.757G>C | NP_000416.1:p.Val253Leu | |
| NM_001143963.2:c.742G>C | NP_001137435.1:p.Val248Leu | |
| NM_001278116.1:c.757G>C | NP_001265045.1:p.Val253Leu | |
| NM_024003.3:c.757G>C | NP_076493.1:p.Val253Leu | |
| NM_000425.5:c.757G>C | NP_000416.1:p.Val253Leu | |
| NM_001278116.2:c.757G>C MANE Select | NP_001265045.1:p.Val253Leu |