Linked Data
dbSNP Id:
rs191997674
gnomAD v2:
2-86257218-A-G
gnomAD v3:
2-86030095-A-G
gnomAD v4:
2-86030095-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86030095A>G , CM000664.2:g.86030095A>G | GRCh38 |
| NC_000002.11:g.86257218A>G , CM000664.1:g.86257218A>G | GRCh37 |
| NC_000002.10:g.86110729A>G | NCBI36 |
| NG_050742.2:g.81061T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263857.11:c.4779+101T>C MANE Select | ENSP00000263857.6:n.4779+101T>C | |
| ENST00000263857.10:c.4779+101T>C | ENSP00000263857.6:n.4779+101T>C | |
| ENST00000409681.1:c.4596+101T>C | ENSP00000386300.1:n.4596+101T>C | |
| NM_015425.3:c.4779+101T>C | NP_056240.2:n.4779+101T>C | |
| XM_006711983.2:c.4455+101T>C | XP_006712046.1:n.4455+101T>C | |
| NM_015425.5:c.4779+101T>C | NP_056240.2:n.4779+101T>C | |
| NM_015425.6:c.4779+101T>C MANE Select | NP_056240.2:n.4779+101T>C |