Linked Data
dbSNP Id:
rs1289003512
gnomAD v2:
X-136649508-A-G
gnomAD v3:
X-137567349-A-G
gnomAD v4:
X-137567349-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137567349A>G , CM000685.2:g.137567349A>G | GRCh38 |
| NC_000023.10:g.136649508A>G , CM000685.1:g.136649508A>G | GRCh37 |
| NC_000023.9:g.136477174A>G | NCBI36 |
| NG_008115.1:g.6163A>G | |
| NG_008115.2:g.6223A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287538.10:c.658A>G MANE Select | ENSP00000287538.5:p.Ser220Gly | |
| ENST00000287538.9:c.658A>G | ENSP00000287538.5:p.Ser220Gly | |
| ENST00000370606.3:c.658A>G | ENSP00000359638.3:p.Ser220Gly | |
| NM_003413.3:c.658A>G | NP_003404.1:p.Ser220Gly | |
| NM_001330661.1:c.658A>G | NP_001317590.1:p.Ser220Gly | |
| NM_003413.4:c.658A>G MANE Select | NP_003404.1:p.Ser220Gly |