Linked Data
ClinVar Variation Id:
2021789
ClinVar RCV Id:
RCV002847284
dbSNP Id:
rs1280698411
gnomAD v2:
12-32751470-C-A
gnomAD v4:
12-32598536-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32598536C>A , CM000674.2:g.32598536C>A | GRCh38 |
| NC_000012.11:g.32751470C>A , CM000674.1:g.32751470C>A | GRCh37 |
| NC_000012.10:g.32642737C>A | NCBI36 |
| NG_008626.2:g.204008C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427716.7:c.640C>A | ENSP00000394487.2:p.Leu214Ile | |
| ENST00000531134.7:c.895C>A | ENSP00000431323.1:p.Leu299Ile | |
| ENST00000583694.2:c.640C>A | ENSP00000462623.2:p.Leu214Ile | |
| ENST00000682739.1:c.361C>A | ENSP00000507616.1:p.Leu121Ile | |
| ENST00000683182.1:c.-410C>A | ENSP00000507831.1:n.-410C>A | |
| ENST00000683515.1:n.147C>A | ||
| ENST00000525053.6:c.640C>A | ENSP00000433666.2:p.Leu214Ile | |
| ENST00000531134.6:c.895C>A | ENSP00000431323.1:p.Leu299Ile | |
| ENST00000534526.7:c.1051C>A MANE Select | ENSP00000449273.1:p.Leu351Ile | |
| ENST00000395740.5:c.640C>A | ENSP00000379089.1:p.Leu214Ile | |
| ENST00000427716.6:c.640C>A | ENSP00000394487.2:p.Leu214Ile | |
| ENST00000493087.5:c.640C>A | ENSP00000437109.1:p.Leu214Ile | |
| ENST00000494977.1:c.129C>A | ||
| ENST00000525053.5:c.976C>A | ENSP00000433666.1:p.Leu326Ile | |
| ENST00000531134.5:c.895C>A | ENSP00000431323.1:p.Leu299Ile | |
| ENST00000534526.6:c.1051C>A | ENSP00000449273.1:p.Leu351Ile | |
| ENST00000546442.5:c.361C>A | ENSP00000446695.1:p.Leu121Ile | |
| ENST00000551984.5:c.*9C>A | ENSP00000449614.1:n.*9C>A | |
| NM_001304480.1:c.976C>A | NP_001291409.1:p.Leu326Ile | |
| NM_001304481.1:c.895C>A | NP_001291410.1:p.Leu299Ile | |
| NM_001304483.1:c.-205C>A | NP_001291412.1:n.-205C>A | |
| NM_001304484.1:c.-512C>A | NP_001291413.1:n.-512C>A | |
| NM_139241.3:c.640C>A | NP_640334.2:p.Leu214Ile | |
| XM_005253304.3:c.1132C>A | XP_005253361.1:p.Leu378Ile | |
| XM_005253307.2:c.361C>A | XP_005253364.1:p.Leu121Ile | |
| XM_005253308.3:c.361C>A | XP_005253365.1:p.Leu121Ile | |
| XM_005253309.1:c.361C>A | XP_005253366.1:p.Leu121Ile | |
| XM_011520554.1:c.934C>A | XP_011518856.1:p.Leu312Ile | |
| XM_011520555.1:c.640C>A | XP_011518857.1:p.Leu214Ile | |
| XM_011520556.1:c.640C>A | XP_011518858.1:p.Leu214Ile | |
| XM_011520557.1:c.88C>A | XP_011518859.1:p.Leu30Ile | |
| XM_011520558.1:c.43C>A | XP_011518860.1:p.Leu15Ile | |
| NM_001330373.1:c.361C>A | NP_001317302.1:p.Leu121Ile | |
| NM_001330374.1:c.361C>A | NP_001317303.1:p.Leu121Ile | |
| XM_005253304.4:c.1132C>A | XP_005253361.1:p.Leu378Ile | |
| XM_005253308.5:c.361C>A | XP_005253365.1:p.Leu121Ile | |
| XM_005253310.4:c.-205C>A | XP_005253367.1:n.-205C>A | |
| XM_011520558.2:c.43C>A | XP_011518860.1:p.Leu15Ile | |
| XM_017018803.1:c.1132C>A | XP_016874292.1:p.Leu378Ile | |
| XM_017018805.1:c.88C>A | XP_016874294.1:p.Leu30Ile | |
| XM_024448837.1:c.361C>A | XP_024304605.1:p.Leu121Ile | |
| XM_024448838.1:c.361C>A | XP_024304606.1:p.Leu121Ile | |
| XM_024448839.1:c.361C>A | XP_024304607.1:p.Leu121Ile | |
| XM_024448840.1:c.-163C>A | XP_024304608.1:n.-163C>A | |
| XR_001748576.1:n.1322C>A | ||
| NM_001370297.1:c.88C>A | NP_001357226.1:p.Leu30Ile | |
| NM_001370298.1:c.1132C>A | NP_001357227.1:p.Leu378Ile | |
| NM_001304483.2:c.-205C>A | NP_001291412.1:n.-205C>A | |
| NM_001304484.2:c.-512C>A | NP_001291413.1:n.-512C>A | |
| NM_001330373.2:c.361C>A | NP_001317302.1:p.Leu121Ile | |
| NM_001330374.2:c.361C>A | NP_001317303.1:p.Leu121Ile | |
| NM_001370298.3:c.1051C>A MANE Select | NP_001357227.2:p.Leu351Ile | |
| NM_001384126.1:c.1051C>A | NP_001371055.1:p.Leu351Ile | |
| NM_001384127.1:c.640C>A | NP_001371056.1:p.Leu214Ile | |
| NM_001384128.1:c.640C>A | NP_001371057.1:p.Leu214Ile | |
| NM_001384130.1:c.361C>A | NP_001371059.1:p.Leu121Ile | |
| NM_001385118.1:c.640C>A | NP_001372047.1:p.Leu214Ile |