Linked Data
ClinVar Variation Id:
1244754
ClinVar RCV Id:
RCV001648962
dbSNP Id:
rs230496
gnomAD v2:
4-103488491-G-A
gnomAD v3:
4-102567334-G-A
gnomAD v4:
4-102567334-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102567334G>A , CM000666.2:g.102567334G>A | GRCh38 |
| NC_000004.11:g.103488491G>A , CM000666.1:g.103488491G>A | GRCh37 |
| NG_050628.1:g.71006G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000507079.6:c.431+199G>A | ENSP00000426147.2:n.431+199G>A | |
| ENST00000509165.2:c.407+199G>A | ENSP00000423877.2:n.407+199G>A | |
| ENST00000697793.1:n.505+199G>A | ||
| ENST00000697794.1:c.*48+199G>A | ENSP00000513443.1:n.*48+199G>A | |
| ENST00000226574.9:c.407+199G>A MANE Select | ENSP00000226574.4:n.407+199G>A | |
| ENST00000652569.1:c.321+199G>A | ||
| ENST00000652619.1:c.428+199G>A | ENSP00000499031.1:n.428+199G>A | |
| ENST00000226574.8:c.407+199G>A | ENSP00000226574.4:n.407+199G>A | |
| ENST00000394820.8:c.404+199G>A | ENSP00000378297.4:n.404+199G>A | |
| ENST00000505458.5:c.404+199G>A | ENSP00000424790.1:n.404+199G>A | |
| ENST00000507079.5:c.431+199G>A | ENSP00000426147.1:n.431+199G>A | |
| ENST00000509165.1:c.407+199G>A | ENSP00000423877.1:n.407+199G>A | |
| ENST00000510638.1:n.251+199G>A | ||
| ENST00000513803.5:n.290+199G>A | ||
| NM_001165412.1:c.404+199G>A | NP_001158884.1:n.404+199G>A | |
| NM_003998.3:c.407+199G>A | NP_003989.2:n.407+199G>A | |
| XM_011532006.1:c.428+199G>A | XP_011530308.1:n.428+199G>A | |
| XM_011532007.1:c.404+199G>A | XP_011530309.1:n.404+199G>A | |
| XM_011532008.1:c.407+199G>A | XP_011530310.1:n.407+199G>A | |
| XM_011532009.1:c.11+199G>A | XP_011530311.1:n.11+199G>A | |
| XR_244680.3:n.1392-558C>T | ||
| XR_939028.1:n.1392-558C>T | ||
| XR_939029.1:n.1392-558C>T | ||
| NM_001319226.1:c.404+199G>A | NP_001306155.1:n.404+199G>A | |
| XM_011532006.2:c.428+199G>A | XP_011530308.1:n.428+199G>A | |
| XM_024454067.1:c.431+199G>A | XP_024309835.1:n.431+199G>A | |
| XM_024454068.1:c.407+199G>A | XP_024309836.1:n.407+199G>A | |
| XM_024454069.1:c.431+199G>A | XP_024309837.1:n.431+199G>A | |
| NM_003998.4:c.407+199G>A MANE Select | NP_003989.2:n.407+199G>A | |
| NM_001165412.2:c.404+199G>A | NP_001158884.1:n.404+199G>A | |
| NM_001319226.2:c.404+199G>A | NP_001306155.1:n.404+199G>A | |
| NM_001382625.1:c.407+199G>A | NP_001369554.1:n.407+199G>A | |
| NM_001382626.1:c.407+199G>A | NP_001369555.1:n.407+199G>A | |
| NM_001382627.1:c.404+199G>A | NP_001369556.1:n.404+199G>A | |
| NM_001382628.1:c.365+199G>A | NP_001369557.1:n.365+199G>A |