Linked Data
dbSNP Id:
rs939958148
gnomAD v2:
4-103519440-T-C
gnomAD v3:
4-102598283-T-C
gnomAD v4:
4-102598283-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102598283T>C , CM000666.2:g.102598283T>C | GRCh38 |
| NC_000004.11:g.103519440T>C , CM000666.1:g.103519440T>C | GRCh37 |
| NC_000004.10:g.103738478T>C | NCBI36 |
| NG_050628.1:g.101955T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507079.6:c.1661+622T>C | ENSP00000426147.2:n.1661+622T>C | |
| ENST00000509165.2:c.1637+622T>C | ENSP00000423877.2:n.1637+622T>C | |
| ENST00000697794.1:c.*1278+622T>C | ENSP00000513443.1:n.*1278+622T>C | |
| ENST00000697799.1:n.1134+622T>C | ||
| ENST00000698233.1:n.1366+622T>C | ||
| ENST00000226574.9:c.1637+622T>C MANE Select | ENSP00000226574.4:n.1637+622T>C | |
| ENST00000652569.1:c.1613+622T>C | ||
| ENST00000652619.1:c.*164+622T>C | ENSP00000499031.1:n.*164+622T>C | |
| ENST00000226574.8:c.1637+622T>C | ENSP00000226574.4:n.1637+622T>C | |
| ENST00000394820.8:c.1634+622T>C | ENSP00000378297.4:n.1634+622T>C | |
| ENST00000505458.5:c.1634+622T>C | ENSP00000424790.1:n.1634+622T>C | |
| ENST00000600343.5:c.1094+622T>C | ENSP00000469340.1:n.1094+622T>C | |
| NM_001165412.1:c.1634+622T>C | NP_001158884.1:n.1634+622T>C | |
| NM_003998.3:c.1637+622T>C | NP_003989.2:n.1637+622T>C | |
| XM_011532006.1:c.1658+622T>C | XP_011530308.1:n.1658+622T>C | |
| XM_011532007.1:c.1634+622T>C | XP_011530309.1:n.1634+622T>C | |
| XM_011532008.1:c.1478+622T>C | XP_011530310.1:n.1478+622T>C | |
| XM_011532009.1:c.1241+622T>C | XP_011530311.1:n.1241+622T>C | |
| XR_939027.1:n.4044A>G | ||
| NM_001319226.1:c.1634+622T>C | NP_001306155.1:n.1634+622T>C | |
| XM_011532006.2:c.1658+622T>C | XP_011530308.1:n.1658+622T>C | |
| XM_024454067.1:c.1661+622T>C | XP_024309835.1:n.1661+622T>C | |
| XM_024454068.1:c.1637+622T>C | XP_024309836.1:n.1637+622T>C | |
| XM_024454069.1:c.1502+622T>C | XP_024309837.1:n.1502+622T>C | |
| NM_003998.4:c.1637+622T>C MANE Select | NP_003989.2:n.1637+622T>C | |
| NM_001165412.2:c.1634+622T>C | NP_001158884.1:n.1634+622T>C | |
| NM_001319226.2:c.1634+622T>C | NP_001306155.1:n.1634+622T>C | |
| NM_001382625.1:c.1637+622T>C | NP_001369554.1:n.1637+622T>C | |
| NM_001382626.1:c.1637+622T>C | NP_001369555.1:n.1637+622T>C | |
| NM_001382627.1:c.1634+622T>C | NP_001369556.1:n.1634+622T>C | |
| NM_001382628.1:c.1595+622T>C | NP_001369557.1:n.1595+622T>C |