Linked Data
ClinVar Variation Id:
134817
dbSNP Id:
rs370620314
ExAC:
7:151843698 G / A
gnomAD v2:
7-151843698-G-A
gnomAD v3:
7-152146613-G-A
gnomAD v4:
7-152146613-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152146613G>A , CM000669.2:g.152146613G>A | GRCh38 |
| NC_000007.13:g.151843698G>A , CM000669.1:g.151843698G>A | GRCh37 |
| NC_000007.12:g.151474631G>A | NCBI36 |
| NG_033948.1:g.294393C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682040.1:c.3149C>T | ||
| ENST00000682116.1:n.3149C>T | ||
| ENST00000682283.1:c.14188C>T | ENSP00000507485.1:p.Arg4730Cys | |
| ENST00000682629.1:n.3317C>T | ||
| ENST00000683120.1:n.9209C>T | ||
| ENST00000683178.1:c.4590C>T | ||
| ENST00000683200.1:c.11527C>T | ENSP00000508052.1:p.Arg3843Cys | |
| ENST00000683337.1:n.5647C>T | ||
| ENST00000683502.1:c.4662C>T | ||
| ENST00000683621.1:n.2783C>T | ||
| ENST00000683640.1:n.2733C>T | ||
| ENST00000684261.1:c.8914C>T | ENSP00000508097.1:p.Arg2972Cys | |
| ENST00000684391.1:n.775C>T | ||
| ENST00000684649.1:c.4662C>T | ||
| ENST00000684768.1:n.219C>T | ||
| ENST00000262189.11:c.14017C>T MANE Select | ENSP00000262189.6:p.Arg4673Cys | |
| ENST00000360104.8:c.9804C>T | ||
| ENST00000418061.2:c.4659C>T | ||
| ENST00000424877.6:c.4593C>T | ||
| ENST00000679393.1:n.8728C>T | ||
| ENST00000679560.1:c.8917C>T | ENSP00000505094.1:p.Arg2973Cys | |
| ENST00000679567.1:n.502C>T | ||
| ENST00000679882.1:c.13582C>T | ENSP00000506154.1:p.Arg4528Cys | |
| ENST00000680029.1:c.4594C>T | ||
| ENST00000680877.1:c.8917C>T | ENSP00000505724.1:p.Arg2973Cys | |
| ENST00000681923.1:n.3032C>T | ||
| ENST00000262189.10:c.14017C>T | ENSP00000262189.6:p.Arg4673Cys | |
| ENST00000355193.6:c.14017C>T | ENSP00000347325.3:p.Arg4673Cys | |
| ENST00000360104.7:c.6698C>T | ||
| ENST00000424877.5:c.3868C>T | ENSP00000410411.1:p.Arg1290Cys | |
| ENST00000473186.5:n.11899C>T | ||
| ENST00000558084.5:c.*11537C>T | ENSP00000453752.1:n.*11537C>T | |
| NM_170606.2:c.14017C>T | NP_733751.2:p.Arg4673Cys | |
| XM_005250025.3:c.14233C>T | XP_005250082.1:p.Arg4745Cys | |
| XM_005250026.2:c.14230C>T | XP_005250083.1:p.Arg4744Cys | |
| XM_005250027.3:c.14230C>T | XP_005250084.1:p.Arg4744Cys | |
| XM_005250028.3:c.14233C>T | XP_005250085.1:p.Arg4745Cys | |
| XM_005250031.3:c.14068C>T | XP_005250088.1:p.Arg4690Cys | |
| XM_006716077.2:c.14230C>T | XP_006716140.1:p.Arg4744Cys | |
| XM_006716078.2:c.14161C>T | XP_006716141.1:p.Arg4721Cys | |
| XM_006716079.2:c.14065C>T | XP_006716142.1:p.Arg4689Cys | |
| XM_011516450.1:c.14185C>T | XP_011514752.1:p.Arg4729Cys | |
| XM_011516451.1:c.14113C>T | XP_011514753.1:p.Arg4705Cys | |
| XM_011516452.1:c.14080C>T | XP_011514754.1:p.Arg4694Cys | |
| XM_011516453.1:c.13996C>T | XP_011514755.1:p.Arg4666Cys | |
| XM_011516454.1:c.13318C>T | XP_011514756.1:p.Arg4440Cys | |
| XM_011516455.1:c.11779C>T | XP_011514757.1:p.Arg3927Cys | |
| XM_011516456.1:c.14185C>T | XP_011514758.1:p.Arg4729Cys | |
| XM_005250025.4:c.14233C>T | XP_005250082.1:p.Arg4745Cys | |
| XM_005250026.3:c.14230C>T | XP_005250083.1:p.Arg4744Cys | |
| XM_005250027.4:c.14230C>T | XP_005250084.1:p.Arg4744Cys | |
| XM_005250028.4:c.14233C>T | XP_005250085.1:p.Arg4745Cys | |
| XM_005250031.4:c.14068C>T | XP_005250088.1:p.Arg4690Cys | |
| XM_006716077.3:c.14230C>T | XP_006716140.1:p.Arg4744Cys | |
| XM_006716078.3:c.14161C>T | XP_006716141.1:p.Arg4721Cys | |
| XM_006716079.3:c.14065C>T | XP_006716142.1:p.Arg4689Cys | |
| XM_011516450.2:c.14185C>T | XP_011514752.1:p.Arg4729Cys | |
| XM_011516451.2:c.14113C>T | XP_011514753.1:p.Arg4705Cys | |
| XM_011516452.2:c.14080C>T | XP_011514754.1:p.Arg4694Cys | |
| XM_011516453.2:c.13996C>T | XP_011514755.1:p.Arg4666Cys | |
| XM_011516454.2:c.13318C>T | XP_011514756.1:p.Arg4440Cys | |
| XM_011516456.2:c.14185C>T | XP_011514758.1:p.Arg4729Cys | |
| XM_017012480.1:c.14233C>T | XP_016867969.1:p.Arg4745Cys | |
| XM_017012481.1:c.14230C>T | XP_016867970.1:p.Arg4744Cys | |
| XM_017012482.1:c.14230C>T | XP_016867971.1:p.Arg4744Cys | |
| XM_017012483.1:c.14230C>T | XP_016867972.1:p.Arg4744Cys | |
| XM_017012484.1:c.14200C>T | XP_016867973.1:p.Arg4734Cys | |
| XM_017012485.1:c.14182C>T | XP_016867974.1:p.Arg4728Cys | |
| XM_017012486.1:c.14158C>T | XP_016867975.1:p.Arg4720Cys | |
| XM_017012487.1:c.14086C>T | XP_016867976.1:p.Arg4696Cys | |
| XM_017012488.1:c.14050C>T | XP_016867977.1:p.Arg4684Cys | |
| XM_017012489.1:c.10903C>T | XP_016867978.1:p.Arg3635Cys | |
| XM_017012490.2:c.10507C>T | XP_016867979.1:p.Arg3503Cys | |
| XM_024446852.1:c.14230C>T | XP_024302620.1:p.Arg4744Cys | |
| XM_024446853.1:c.14158C>T | XP_024302621.1:p.Arg4720Cys | |
| NM_170606.3:c.14017C>T MANE Select | NP_733751.2:p.Arg4673Cys |