Linked Data
dbSNP Id:
rs13031237
gnomAD v2:
2-61136129-G-T
gnomAD v3:
2-60908994-G-T
gnomAD v4:
2-60908994-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.60908994G>T , CM000664.2:g.60908994G>T | GRCh38 |
| NC_000002.11:g.61136129G>T , CM000664.1:g.61136129G>T | GRCh37 |
| NC_000002.10:g.60989633G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699191.1:c.395-7883G>T | ENSP00000514191.1:n.395-7883G>T | |
| ENST00000699192.1:c.395-7883G>T | ENSP00000514192.1:n.395-7883G>T | |
| ENST00000699193.1:c.303-7883G>T | ENSP00000514193.1:n.303-7883G>T | |
| ENST00000699194.1:n.346-7883G>T | ||
| ENST00000394479.4:c.395-7883G>T MANE Select | ENSP00000377989.4:n.395-7883G>T | |
| ENST00000295025.12:c.395-7883G>T | ENSP00000295025.7:n.395-7883G>T | |
| ENST00000394479.3:c.395-7883G>T | ENSP00000377989.3:n.395-7883G>T | |
| NM_001291746.1:c.395-7883G>T | NP_001278675.1:n.395-7883G>T | |
| NM_002908.3:c.395-7883G>T | NP_002899.1:n.395-7883G>T | |
| XM_011533010.1:c.101-7883G>T | XP_011531312.1:n.101-7883G>T | |
| XM_011533010.3:c.101-7883G>T | XP_011531312.1:n.101-7883G>T | |
| XM_017004627.2:c.395-7883G>T | XP_016860116.1:n.395-7883G>T | |
| NM_001291746.2:c.395-7883G>T MANE Select | NP_001278675.1:n.395-7883G>T | |
| NM_002908.4:c.395-7883G>T | NP_002899.1:n.395-7883G>T |