Linked Data
dbSNP Id:
rs11933531
gnomAD v2:
4-92415529-G-A
gnomAD v3:
4-91494378-G-A
gnomAD v4:
4-91494378-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.91494378G>A , CM000666.2:g.91494378G>A | GRCh38 |
| NC_000004.11:g.92415529G>A , CM000666.1:g.92415529G>A | GRCh37 |
| NC_000004.10:g.92634552G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000509176.6:c.2218-104194G>A MANE Select | ENSP00000425040.1:n.2218-104194G>A | |
| ENST00000649522.1:c.92-104194G>A | ENSP00000497818.1:n.92-104194G>A | |
| ENST00000509176.5:c.2218-104194G>A | ENSP00000425040.1:n.2218-104194G>A | |
| NM_001145065.1:c.2218-104194G>A | NP_001138537.1:n.2218-104194G>A | |
| XM_011531936.1:c.2314-104194G>A | XP_011530238.1:n.2314-104194G>A | |
| XM_011531937.1:c.2314-104194G>A | XP_011530239.1:n.2314-104194G>A | |
| XM_011531938.1:c.2314-104194G>A | XP_011530240.1:n.2314-104194G>A | |
| XM_011531939.1:c.2314-104194G>A | XP_011530241.1:n.2314-104194G>A | |
| XM_011531940.1:c.2236-104194G>A | XP_011530242.1:n.2236-104194G>A | |
| XM_011531937.2:c.2314-104194G>A | XP_011530239.1:n.2314-104194G>A | |
| XM_011531938.2:c.2314-104194G>A | XP_011530240.1:n.2314-104194G>A | |
| XM_011531939.2:c.2314-104194G>A | XP_011530241.1:n.2314-104194G>A | |
| XM_017008194.1:c.2314-104194G>A | XP_016863683.1:n.2314-104194G>A | |
| NM_001145065.2:c.2218-104194G>A MANE Select | NP_001138537.1:n.2218-104194G>A |