Linked Data
ClinVar Variation Id:
242314
dbSNP Id:
rs142609007
ExAC:
12:32735130 T / C
gnomAD v2:
12-32735130-T-C
gnomAD v3:
12-32582196-T-C
gnomAD v4:
12-32582196-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32582196T>C , CM000674.2:g.32582196T>C | GRCh38 |
| NC_000012.11:g.32735130T>C , CM000674.1:g.32735130T>C | GRCh37 |
| NC_000012.10:g.32626397T>C | NCBI36 |
| NG_008626.2:g.187668T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000427716.7:c.329T>C | ENSP00000394487.2:p.Leu110Pro | |
| ENST00000531134.7:c.584T>C | ENSP00000431323.1:p.Leu195Pro | |
| ENST00000583694.2:c.329T>C | ENSP00000462623.2:p.Leu110Pro | |
| ENST00000682739.1:c.50T>C | ENSP00000507616.1:p.Leu17Pro | |
| ENST00000683182.1:c.-449-16301T>C | ENSP00000507831.1:n.-449-16301T>C | |
| ENST00000525053.6:c.329T>C | ENSP00000433666.2:p.Leu110Pro | |
| ENST00000531134.6:c.584T>C | ENSP00000431323.1:p.Leu195Pro | |
| ENST00000534526.7:c.740T>C MANE Select | ENSP00000449273.1:p.Leu247Pro | |
| ENST00000395740.5:c.329T>C | ENSP00000379089.1:p.Leu110Pro | |
| ENST00000427716.6:c.329T>C | ENSP00000394487.2:p.Leu110Pro | |
| ENST00000472289.5:c.329T>C | ENSP00000434356.1:p.Leu110Pro | |
| ENST00000493087.5:c.329T>C | ENSP00000437109.1:p.Leu110Pro | |
| ENST00000494275.5:n.680T>C | ||
| ENST00000525053.5:c.665T>C | ENSP00000433666.1:p.Leu222Pro | |
| ENST00000531134.5:c.584T>C | ENSP00000431323.1:p.Leu195Pro | |
| ENST00000534526.6:c.740T>C | ENSP00000449273.1:p.Leu247Pro | |
| ENST00000546442.5:c.50T>C | ENSP00000446695.1:p.Leu17Pro | |
| ENST00000550091.5:n.494T>C | ||
| ENST00000551984.5:c.92+5747T>C | ENSP00000449614.1:n.92+5747T>C | |
| NM_001304480.1:c.665T>C | NP_001291409.1:p.Leu222Pro | |
| NM_001304481.1:c.584T>C | NP_001291410.1:p.Leu195Pro | |
| NM_001304483.1:c.-516T>C | NP_001291412.1:n.-516T>C | |
| NM_001304484.1:c.-823T>C | NP_001291413.1:n.-823T>C | |
| NM_139241.3:c.329T>C | NP_640334.2:p.Leu110Pro | |
| XM_005253304.3:c.821T>C | XP_005253361.1:p.Leu274Pro | |
| XM_005253307.2:c.50T>C | XP_005253364.1:p.Leu17Pro | |
| XM_005253308.3:c.50T>C | XP_005253365.1:p.Leu17Pro | |
| XM_005253309.1:c.50T>C | XP_005253366.1:p.Leu17Pro | |
| XM_011520554.1:c.623T>C | XP_011518856.1:p.Leu208Pro | |
| XM_011520555.1:c.329T>C | XP_011518857.1:p.Leu110Pro | |
| XM_011520556.1:c.329T>C | XP_011518858.1:p.Leu110Pro | |
| XM_011520557.1:c.49-16301T>C | XP_011518859.1:n.49-16301T>C | |
| NM_001330373.1:c.50T>C | NP_001317302.1:p.Leu17Pro | |
| NM_001330374.1:c.50T>C | NP_001317303.1:p.Leu17Pro | |
| XM_005253304.4:c.821T>C | XP_005253361.1:p.Leu274Pro | |
| XM_005253308.5:c.50T>C | XP_005253365.1:p.Leu17Pro | |
| XM_005253310.4:c.-516T>C | XP_005253367.1:n.-516T>C | |
| XM_017018803.1:c.821T>C | XP_016874292.1:p.Leu274Pro | |
| XM_017018805.1:c.49-16301T>C | XP_016874294.1:n.49-16301T>C | |
| XM_024448837.1:c.50T>C | XP_024304605.1:p.Leu17Pro | |
| XM_024448838.1:c.50T>C | XP_024304606.1:p.Leu17Pro | |
| XM_024448839.1:c.50T>C | XP_024304607.1:p.Leu17Pro | |
| XM_024448840.1:c.-202-16301T>C | XP_024304608.1:n.-202-16301T>C | |
| XR_001748576.1:n.1011T>C | ||
| NM_001370297.1:c.49-16301T>C | NP_001357226.1:n.49-16301T>C | |
| NM_001370298.1:c.821T>C | NP_001357227.1:p.Leu274Pro | |
| NM_001304483.2:c.-516T>C | NP_001291412.1:n.-516T>C | |
| NM_001304484.2:c.-823T>C | NP_001291413.1:n.-823T>C | |
| NM_001330373.2:c.50T>C | NP_001317302.1:p.Leu17Pro | |
| NM_001330374.2:c.50T>C | NP_001317303.1:p.Leu17Pro | |
| NM_001370298.3:c.740T>C MANE Select | NP_001357227.2:p.Leu247Pro | |
| NM_001384126.1:c.740T>C | NP_001371055.1:p.Leu247Pro | |
| NM_001384127.1:c.329T>C | NP_001371056.1:p.Leu110Pro | |
| NM_001384128.1:c.329T>C | NP_001371057.1:p.Leu110Pro | |
| NM_001384130.1:c.50T>C | NP_001371059.1:p.Leu17Pro | |
| NM_001384131.1:c.329T>C | NP_001371060.1:p.Leu110Pro | |
| NM_001384132.1:c.329T>C | NP_001371061.1:p.Leu110Pro | |
| NM_001385118.1:c.329T>C | NP_001372047.1:p.Leu110Pro | |
| NR_168884.1:n.566T>C |