Linked Data
dbSNP Id:
rs9315204
gnomAD v2:
13-33693837-C-T
gnomAD v3:
13-33119700-C-T
gnomAD v4:
13-33119700-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33119700C>T , CM000675.2:g.33119700C>T | GRCh38 |
| NC_000013.10:g.33693837C>T , CM000675.1:g.33693837C>T | GRCh37 |
| NC_000013.9:g.32591837C>T | NCBI36 |
| NG_029752.1:g.171065G>A | |
| NG_029752.2:g.562136G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567873.2:c.2038-1437G>A | ENSP00000456233.2:n.2038-1437G>A | |
| ENST00000336934.10:c.2083-1437G>A MANE Select | ENSP00000338785.4:n.2083-1437G>A | |
| ENST00000255486.8:c.2059-1437G>A | ENSP00000255486.4:n.2059-1437G>A | |
| ENST00000336934.9:c.2083-1437G>A | ENSP00000338785.4:n.2083-1437G>A | |
| ENST00000399365.7:c.1729-1437G>A | ENSP00000382300.3:n.1729-1437G>A | |
| NM_001243466.1:c.2059-1459G>A | NP_001230395.1:n.2059-1459G>A | |
| NM_001243474.1:c.1729-1437G>A | NP_001230403.1:n.1729-1437G>A | |
| NM_001243476.2:c.1978-1437G>A | NP_001230405.1:n.1978-1437G>A | |
| NM_052851.2:c.1729-1437G>A | NP_443083.1:n.1729-1437G>A | |
| NM_178006.3:c.2083-1437G>A | NP_821074.1:n.2083-1437G>A | |
| NM_178007.2:c.2059-1437G>A | NP_821075.1:n.2059-1437G>A | |
| XM_011535298.1:c.2116-1437G>A | XP_011533600.1:n.2116-1437G>A | |
| XM_011535299.1:c.1978-1437G>A | XP_011533601.1:n.1978-1437G>A | |
| XM_011535299.3:c.1978-1437G>A | XP_011533601.1:n.1978-1437G>A | |
| XM_017020834.2:c.2038-1437G>A | XP_016876323.1:n.2038-1437G>A | |
| XM_017020835.2:c.1978-1437G>A | XP_016876324.1:n.1978-1437G>A | |
| XM_024449429.1:c.1978-1437G>A | XP_024305197.1:n.1978-1437G>A | |
| NM_178006.4:c.2083-1437G>A MANE Select | NP_821074.1:n.2083-1437G>A | |
| NM_001243466.2:c.2059-1459G>A | NP_001230395.1:n.2059-1459G>A | |
| NM_001243476.3:c.1978-1437G>A | NP_001230405.1:n.1978-1437G>A | |
| NM_052851.3:c.1729-1437G>A | NP_443083.1:n.1729-1437G>A | |
| NM_178007.3:c.2059-1437G>A | NP_821075.1:n.2059-1437G>A | |
| NM_001243474.2:c.1729-1437G>A | NP_001230403.1:n.1729-1437G>A |