Linked Data
ClinVar Variation Id:
127315
ClinVar RCV Id:
RCV000120028
RCV000115116
RCV000122796
RCV000501432
RCV002228340
RCV003477493
RCV003492450
RCV003743566
dbSNP Id:
rs200587641
ExAC:
5:112178148 C / T
gnomAD v2:
5-112178148-C-T
gnomAD v3:
5-112842451-C-T
gnomAD v4:
5-112842451-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842451C>T , CM000667.2:g.112842451C>T | GRCh38 |
| NC_000005.9:g.112178148C>T , CM000667.1:g.112178148C>T | GRCh37 |
| NC_000005.8:g.112206047C>T | NCBI36 |
| NG_008481.4:g.154931C>T , LRG_130:g.154931C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.6911C>T | ENSP00000473355.2:p.Ala2304Val | |
| ENST00000505350.2:c.*6863C>T | ENSP00000481752.1:n.*6863C>T | |
| ENST00000507379.6:c.6803C>T | ENSP00000423224.2:p.Ala2268Val | |
| ENST00000509732.6:c.6857C>T | ENSP00000426541.2:p.Ala2286Val | |
| ENST00000512211.7:c.6857C>T | ENSP00000423828.3:p.Ala2286Val | |
| ENST00000257430.9:c.6857C>T MANE Select | ENSP00000257430.4:p.Ala2286Val | |
| ENST00000257430.8:c.6857C>T | ENSP00000257430.4:p.Ala2286Val | |
| ENST00000508376.6:c.6857C>T | ENSP00000427089.2:p.Ala2286Val | |
| ENST00000508624.5:c.*6179C>T | ENSP00000424265.1:n.*6179C>T | |
| ENST00000520401.1:c.230+13479C>T | ||
| NM_000038.5:c.6857C>T | NP_000029.2:p.Ala2286Val | |
| NM_001127510.2:c.6857C>T | NP_001120982.1:p.Ala2286Val | |
| NM_001127511.2:c.6803C>T | NP_001120983.2:p.Ala2268Val | |
| NM_001354895.1:c.6857C>T | NP_001341824.1:p.Ala2286Val | |
| NM_001354896.1:c.6911C>T | NP_001341825.1:p.Ala2304Val | |
| NM_001354897.1:c.6887C>T | NP_001341826.1:p.Ala2296Val | |
| NM_001354898.1:c.6782C>T | NP_001341827.1:p.Ala2261Val | |
| NM_001354899.1:c.6773C>T | NP_001341828.1:p.Ala2258Val | |
| NM_001354900.1:c.6734C>T | NP_001341829.1:p.Ala2245Val | |
| NM_001354901.1:c.6680C>T | NP_001341830.1:p.Ala2227Val | |
| NM_001354902.1:c.6584C>T | NP_001341831.1:p.Ala2195Val | |
| NM_001354903.1:c.6554C>T | NP_001341832.1:p.Ala2185Val | |
| NM_001354904.1:c.6479C>T | NP_001341833.1:p.Ala2160Val | |
| NM_001354905.1:c.6377C>T | NP_001341834.1:p.Ala2126Val | |
| NM_001354906.1:c.6008C>T | NP_001341835.1:p.Ala2003Val | |
| NM_000038.6:c.6857C>T MANE Select | NP_000029.2:p.Ala2286Val | |
| NM_001127510.3:c.6857C>T | NP_001120982.1:p.Ala2286Val | |
| NM_001127511.3:c.6803C>T | NP_001120983.2:p.Ala2268Val | |
| NM_001354895.2:c.6857C>T | NP_001341824.1:p.Ala2286Val | |
| NM_001354896.2:c.6911C>T | NP_001341825.1:p.Ala2304Val | |
| NM_001354897.2:c.6887C>T | NP_001341826.1:p.Ala2296Val | |
| NM_001354898.2:c.6782C>T | NP_001341827.1:p.Ala2261Val | |
| NM_001354899.2:c.6773C>T | NP_001341828.1:p.Ala2258Val | |
| NM_001354900.2:c.6734C>T | NP_001341829.1:p.Ala2245Val | |
| NM_001354901.2:c.6680C>T | NP_001341830.1:p.Ala2227Val | |
| NM_001354902.2:c.6584C>T | NP_001341831.1:p.Ala2195Val | |
| NM_001354903.2:c.6554C>T | NP_001341832.1:p.Ala2185Val | |
| NM_001354904.2:c.6479C>T | NP_001341833.1:p.Ala2160Val | |
| NM_001354905.2:c.6377C>T | NP_001341834.1:p.Ala2126Val | |
| NM_001354906.2:c.6008C>T | NP_001341835.1:p.Ala2003Val |