Linked Data
dbSNP Id:
rs10030601
gnomAD v2:
4-150725212-T-C
gnomAD v3:
4-149804060-T-C
gnomAD v4:
4-149804060-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.149804060T>C , CM000666.2:g.149804060T>C | GRCh38 |
| NC_000004.11:g.150725212T>C , CM000666.1:g.150725212T>C | GRCh37 |
| NC_000004.10:g.150944662T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000502345.5:n.254-10344A>G | ||
| ENST00000508106.5:n.138+11251A>G | ||
| ENST00000510975.1:n.253+11251A>G | ||
| ENST00000511993.5:n.267+11251A>G | ||
| ENST00000636414.1:c.-49+11251A>G | ENSP00000490088.1:n.-49+11251A>G | |
| ENST00000636793.2:c.-49+11251A>G MANE Select | ENSP00000490518.1:n.-49+11251A>G | |
| XM_011532445.1:c.-112+11251A>G | XP_011530747.1:n.-112+11251A>G | |
| XM_011532446.1:c.-195+11251A>G | XP_011530748.1:n.-195+11251A>G | |
| XM_011532447.1:c.-49+11251A>G | XP_011530749.1:n.-49+11251A>G | |
| XM_011532448.1:c.-112+11251A>G | XP_011530750.1:n.-112+11251A>G | |
| XM_011532449.1:c.-112+11251A>G | XP_011530751.1:n.-112+11251A>G | |
| XM_011532450.1:c.-112+11251A>G | XP_011530752.1:n.-112+11251A>G | |
| XM_011532451.1:c.-112+11251A>G | XP_011530753.1:n.-112+11251A>G | |
| XM_011532452.1:c.-112+11251A>G | XP_011530754.1:n.-112+11251A>G | |
| XM_011532453.1:c.-112+11251A>G | XP_011530755.1:n.-112+11251A>G | |
| XM_011532454.1:c.-112+11251A>G | XP_011530756.1:n.-112+11251A>G | |
| XM_011532455.1:c.-112+11251A>G | XP_011530757.1:n.-112+11251A>G | |
| XM_011532456.1:c.-112+11251A>G | XP_011530758.1:n.-112+11251A>G | |
| XM_011532457.1:c.-372+11251A>G | XP_011530759.1:n.-372+11251A>G | |
| XR_939324.1:n.274+11251A>G | ||
| XR_939325.1:n.274+11251A>G | ||
| XR_939326.1:n.274+11251A>G | ||
| NM_001363507.1:c.-49+11251A>G | NP_001350436.1:n.-49+11251A>G | |
| NM_001363509.1:c.-49+11251A>G | NP_001350438.1:n.-49+11251A>G | |
| XM_011532454.3:c.-112+11251A>G | XP_011530756.1:n.-112+11251A>G | |
| XM_011532456.3:c.-112+11251A>G | XP_011530758.1:n.-112+11251A>G | |
| XM_017008900.2:c.-112+11251A>G | XP_016864389.1:n.-112+11251A>G | |
| XM_017008901.2:c.-195+11251A>G | XP_016864390.1:n.-195+11251A>G | |
| XM_017008902.2:c.-49+11251A>G | XP_016864391.1:n.-49+11251A>G | |
| XM_017008903.2:c.-112+11251A>G | XP_016864392.1:n.-112+11251A>G | |
| XM_017008904.2:c.-372+11251A>G | XP_016864393.1:n.-372+11251A>G | |
| XM_024454308.1:c.-49+11251A>G | XP_024310076.1:n.-49+11251A>G | |
| XM_024454309.1:c.-112+11251A>G | XP_024310077.1:n.-112+11251A>G | |
| XM_024454311.1:c.-372+11251A>G | XP_024310079.1:n.-372+11251A>G | |
| XM_024454312.1:c.-405+11251A>G | XP_024310080.1:n.-405+11251A>G | |
| XM_024454313.1:c.-320+11251A>G | XP_024310081.1:n.-320+11251A>G | |
| XM_024454314.1:c.-468+11251A>G | XP_024310082.1:n.-468+11251A>G | |
| XM_024454315.1:c.-372+11251A>G | XP_024310083.1:n.-372+11251A>G | |
| XM_024454316.1:c.-320+11251A>G | XP_024310084.1:n.-320+11251A>G | |
| NM_001363507.2:c.-49+11251A>G MANE Select | NP_001350436.1:n.-49+11251A>G | |
| NM_001363509.2:c.-49+11251A>G | NP_001350438.1:n.-49+11251A>G | |
| NM_001378177.1:c.-112+11251A>G | NP_001365106.1:n.-112+11251A>G | |
| NM_001378178.1:c.-49+11251A>G | NP_001365107.1:n.-49+11251A>G | |
| NM_001378179.1:c.-112+11251A>G | NP_001365108.1:n.-112+11251A>G | |
| NM_001378180.1:c.-320+11251A>G | NP_001365109.1:n.-320+11251A>G | |
| NM_001378181.1:c.-372+11251A>G | NP_001365110.1:n.-372+11251A>G | |
| NM_001378182.1:c.-468+11251A>G | NP_001365111.1:n.-468+11251A>G | |
| NM_001378184.1:c.-320+11251A>G | NP_001365113.1:n.-320+11251A>G | |
| NM_001378185.1:c.-112+11251A>G | NP_001365114.1:n.-112+11251A>G | |
| NM_001378186.1:c.-49+11251A>G | NP_001365115.1:n.-49+11251A>G | |
| NM_001378187.1:c.-143+11251A>G | NP_001365116.1:n.-143+11251A>G |