Linked Data
ClinVar Variation Id:
11340
ClinVar RCV Id:
RCV000012093
dbSNP Id:
rs786200913
gnomAD v4:
X-120545519-T-C
PubMed:
PMID:17236139
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120545519T>C , CM000685.2:g.120545519T>C | GRCh38 |
| NC_000023.10:g.119679374T>C , CM000685.1:g.119679374T>C | GRCh37 |
| NC_000023.9:g.119563402T>C | NCBI36 |
| NG_009388.1:g.35311A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336592.11:c.862-2A>G | ENSP00000338919.6:n.862-2A>G | |
| ENST00000371322.11:c.847-2A>G MANE Select | ENSP00000360373.5:n.847-2A>G | |
| ENST00000371323.3:c.313-2A>G | ENSP00000360374.3:n.313-2A>G | |
| ENST00000404115.8:c.847-2A>G | ENSP00000384109.4:n.847-2A>G | |
| ENST00000673919.1:c.*294-2A>G | ENSP00000500994.1:n.*294-2A>G | |
| ENST00000674073.2:c.291-2A>G | ||
| ENST00000674137.11:c.847-2A>G | ENSP00000501019.6:n.847-2A>G | |
| ENST00000679405.1:c.*56-2A>G | ENSP00000504985.1:n.*56-2A>G | |
| ENST00000679432.1:c.952-2A>G | ||
| ENST00000679844.1:c.291-2A>G | ||
| ENST00000679927.1:c.502-2A>G | ENSP00000505603.1:n.502-2A>G | |
| ENST00000680165.1:n.1173-2A>G | ||
| ENST00000680324.1:n.761-2A>G | ||
| ENST00000680457.1:n.275-2A>G | ||
| ENST00000680474.1:c.291-2A>G | ||
| ENST00000680577.1:n.1008-2A>G | ||
| ENST00000680673.1:c.901-2A>G | ENSP00000505084.1:n.901-2A>G | |
| ENST00000680918.1:c.291-2A>G | ||
| ENST00000681080.1:c.337-2A>G | ||
| ENST00000681090.1:c.847-2A>G | ENSP00000506288.1:n.847-2A>G | |
| ENST00000681189.1:c.291-2A>G | ||
| ENST00000681206.1:c.961-2A>G | ENSP00000505480.1:n.961-2A>G | |
| ENST00000681224.1:n.127-2A>G | ||
| ENST00000681253.1:c.901-2A>G | ENSP00000506259.1:n.901-2A>G | |
| ENST00000681333.1:c.847-2A>G | ENSP00000505739.1:n.847-2A>G | |
| ENST00000681652.1:c.901-2A>G | ENSP00000505176.1:n.901-2A>G | |
| ENST00000681864.1:n.1491-2A>G | ||
| ENST00000681869.1:c.291-2A>G | ||
| ENST00000681908.1:c.291-2A>G | ||
| ENST00000336592.10:c.862-2A>G | ENSP00000338919.6:n.862-2A>G | |
| ENST00000371322.9:c.847-2A>G | ENSP00000360373.5:n.847-2A>G | |
| ENST00000371323.2:c.313-2A>G | ENSP00000360374.2:n.313-2A>G | |
| ENST00000404115.7:c.901-2A>G | ENSP00000384109.3:n.901-2A>G | |
| NM_001079872.1:c.847-2A>G | NP_001073341.1:n.847-2A>G | |
| NM_003588.3:c.901-2A>G | NP_003579.3:n.901-2A>G | |
| XM_005262481.1:c.901-2A>G | XP_005262538.1:n.901-2A>G | |
| XM_006724784.1:c.862-2A>G | XP_006724847.1:n.862-2A>G | |
| XM_006724785.1:c.862-2A>G | XP_006724848.1:n.862-2A>G | |
| XM_011531399.1:c.313-2A>G | XP_011529701.1:n.313-2A>G | |
| XM_011531400.1:c.313-2A>G | XP_011529702.1:n.313-2A>G | |
| XM_011531401.1:c.259-2A>G | XP_011529703.1:n.259-2A>G | |
| NM_001330624.1:c.862-2A>G | NP_001317553.1:n.862-2A>G | |
| XM_011531399.2:c.313-2A>G | XP_011529701.1:n.313-2A>G | |
| XM_011531400.2:c.313-2A>G | XP_011529702.1:n.313-2A>G | |
| NM_001079872.2:c.847-2A>G MANE Select | NP_001073341.1:n.847-2A>G | |
| NM_001369145.1:c.313-2A>G | NP_001356074.1:n.313-2A>G | |
| NM_001330624.2:c.862-2A>G | NP_001317553.1:n.862-2A>G | |
| NM_003588.4:c.901-2A>G | NP_003579.3:n.901-2A>G |