Linked Data
ClinVar Variation Id:
543399
ClinVar RCV Id:
RCV000654153
dbSNP Id:
rs1208033042
gnomAD v2:
12-32735238-G-T
gnomAD v3:
12-32582304-G-T
gnomAD v4:
12-32582304-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32582304G>T , CM000674.2:g.32582304G>T | GRCh38 |
| NC_000012.11:g.32735238G>T , CM000674.1:g.32735238G>T | GRCh37 |
| NC_000012.10:g.32626505G>T | NCBI36 |
| NG_008626.2:g.187776G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427716.7:c.437G>T | ENSP00000394487.2:p.Ser146Ile | |
| ENST00000531134.7:c.692G>T | ENSP00000431323.1:p.Ser231Ile | |
| ENST00000583694.2:c.437G>T | ENSP00000462623.2:p.Ser146Ile | |
| ENST00000682739.1:c.158G>T | ENSP00000507616.1:p.Ser53Ile | |
| ENST00000683182.1:c.-449-16193G>T | ENSP00000507831.1:n.-449-16193G>T | |
| ENST00000525053.6:c.437G>T | ENSP00000433666.2:p.Ser146Ile | |
| ENST00000531134.6:c.692G>T | ENSP00000431323.1:p.Ser231Ile | |
| ENST00000534526.7:c.848G>T MANE Select | ENSP00000449273.1:p.Ser283Ile | |
| ENST00000395740.5:c.437G>T | ENSP00000379089.1:p.Ser146Ile | |
| ENST00000427716.6:c.437G>T | ENSP00000394487.2:p.Ser146Ile | |
| ENST00000472289.5:c.437G>T | ENSP00000434356.1:p.Ser146Ile | |
| ENST00000493087.5:c.437G>T | ENSP00000437109.1:p.Ser146Ile | |
| ENST00000494275.5:n.788G>T | ||
| ENST00000525053.5:c.773G>T | ENSP00000433666.1:p.Ser258Ile | |
| ENST00000531134.5:c.692G>T | ENSP00000431323.1:p.Ser231Ile | |
| ENST00000534526.6:c.848G>T | ENSP00000449273.1:p.Ser283Ile | |
| ENST00000546442.5:c.158G>T | ENSP00000446695.1:p.Ser53Ile | |
| ENST00000551984.5:c.92+5855G>T | ENSP00000449614.1:n.92+5855G>T | |
| NM_001304480.1:c.773G>T | NP_001291409.1:p.Ser258Ile | |
| NM_001304481.1:c.692G>T | NP_001291410.1:p.Ser231Ile | |
| NM_001304483.1:c.-408G>T | NP_001291412.1:n.-408G>T | |
| NM_001304484.1:c.-715G>T | NP_001291413.1:n.-715G>T | |
| NM_139241.3:c.437G>T | NP_640334.2:p.Ser146Ile | |
| XM_005253304.3:c.929G>T | XP_005253361.1:p.Ser310Ile | |
| XM_005253307.2:c.158G>T | XP_005253364.1:p.Ser53Ile | |
| XM_005253308.3:c.158G>T | XP_005253365.1:p.Ser53Ile | |
| XM_005253309.1:c.158G>T | XP_005253366.1:p.Ser53Ile | |
| XM_011520554.1:c.731G>T | XP_011518856.1:p.Ser244Ile | |
| XM_011520555.1:c.437G>T | XP_011518857.1:p.Ser146Ile | |
| XM_011520556.1:c.437G>T | XP_011518858.1:p.Ser146Ile | |
| XM_011520557.1:c.49-16193G>T | XP_011518859.1:n.49-16193G>T | |
| NM_001330373.1:c.158G>T | NP_001317302.1:p.Ser53Ile | |
| NM_001330374.1:c.158G>T | NP_001317303.1:p.Ser53Ile | |
| XM_005253304.4:c.929G>T | XP_005253361.1:p.Ser310Ile | |
| XM_005253308.5:c.158G>T | XP_005253365.1:p.Ser53Ile | |
| XM_005253310.4:c.-408G>T | XP_005253367.1:n.-408G>T | |
| XM_017018803.1:c.929G>T | XP_016874292.1:p.Ser310Ile | |
| XM_017018805.1:c.49-16193G>T | XP_016874294.1:n.49-16193G>T | |
| XM_024448837.1:c.158G>T | XP_024304605.1:p.Ser53Ile | |
| XM_024448838.1:c.158G>T | XP_024304606.1:p.Ser53Ile | |
| XM_024448839.1:c.158G>T | XP_024304607.1:p.Ser53Ile | |
| XM_024448840.1:c.-202-16193G>T | XP_024304608.1:n.-202-16193G>T | |
| XR_001748576.1:n.1119G>T | ||
| NM_001370297.1:c.49-16193G>T | NP_001357226.1:n.49-16193G>T | |
| NM_001370298.1:c.929G>T | NP_001357227.1:p.Ser310Ile | |
| NM_001304483.2:c.-408G>T | NP_001291412.1:n.-408G>T | |
| NM_001304484.2:c.-715G>T | NP_001291413.1:n.-715G>T | |
| NM_001330373.2:c.158G>T | NP_001317302.1:p.Ser53Ile | |
| NM_001330374.2:c.158G>T | NP_001317303.1:p.Ser53Ile | |
| NM_001370298.3:c.848G>T MANE Select | NP_001357227.2:p.Ser283Ile | |
| NM_001384126.1:c.848G>T | NP_001371055.1:p.Ser283Ile | |
| NM_001384127.1:c.437G>T | NP_001371056.1:p.Ser146Ile | |
| NM_001384128.1:c.437G>T | NP_001371057.1:p.Ser146Ile | |
| NM_001384130.1:c.158G>T | NP_001371059.1:p.Ser53Ile | |
| NM_001384131.1:c.437G>T | NP_001371060.1:p.Ser146Ile | |
| NM_001384132.1:c.437G>T | NP_001371061.1:p.Ser146Ile | |
| NM_001385118.1:c.437G>T | NP_001372047.1:p.Ser146Ile | |
| NR_168884.1:n.674G>T |