Linked Data
ClinVar Variation Id:
496638
ClinVar RCV Id:
RCV000590884
dbSNP Id:
rs1555453207
gnomAD v4:
16-2106619-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2106619G>T , CM000678.2:g.2106619G>T | GRCh38 |
| NC_000016.9:g.2156620G>T , CM000678.1:g.2156620G>T | GRCh37 |
| NC_000016.8:g.2096621G>T | NCBI36 |
| NG_008617.1:g.34280C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.7268C>A MANE Select | ENSP00000262304.4:p.Ser2423Tyr | |
| ENST00000262304.8:c.7268C>A | ENSP00000262304.4:p.Ser2423Tyr | |
| ENST00000415938.7:n.513C>A | ||
| ENST00000423118.5:c.7268C>A | ENSP00000399501.1:p.Ser2423Tyr | |
| ENST00000483024.1:c.436C>A | ||
| ENST00000483558.5:n.327C>A | ||
| ENST00000483731.5:n.993C>A | ||
| ENST00000486339.6:n.1014C>A | ||
| ENST00000487932.5:c.1955C>A | ENSP00000457132.1:p.Ser652Tyr | |
| ENST00000496574.6:n.1271C>A | ||
| ENST00000565639.6:n.976C>A | ||
| ENST00000568591.5:c.2429C>A | ENSP00000457162.1:n.2429C>A | |
| ENST00000569983.5:n.624C>A | ||
| NM_000296.3:c.7268C>A | NP_000287.3:p.Ser2423Tyr | |
| NM_001009944.2:c.7268C>A | NP_001009944.2:p.Ser2423Tyr | |
| XM_005255370.2:c.4223C>A | XP_005255427.1:p.Ser1408Tyr | |
| XM_011522525.1:c.7346C>A | XP_011520827.1:p.Ser2449Tyr | |
| XM_011522526.1:c.7346C>A | XP_011520828.1:p.Ser2449Tyr | |
| XM_011522527.1:c.7346C>A | XP_011520829.1:p.Ser2449Tyr | |
| XM_011522528.1:c.7322C>A | XP_011520830.1:p.Ser2441Tyr | |
| XM_011522529.1:c.7322C>A | XP_011520831.1:p.Ser2441Tyr | |
| XM_011522530.1:c.7292C>A | XP_011520832.1:p.Ser2431Tyr | |
| XM_011522531.1:c.7274C>A | XP_011520833.1:p.Ser2425Tyr | |
| XM_011522532.1:c.7220C>A | XP_011520834.1:p.Ser2407Tyr | |
| XM_011522533.1:c.7139C>A | XP_011520835.1:p.Ser2380Tyr | |
| XM_011522534.1:c.7082C>A | XP_011520836.1:p.Ser2361Tyr | |
| XM_011522535.1:c.5168C>A | XP_011520837.1:p.Ser1723Tyr | |
| XM_011522536.1:c.7346C>A | XP_011520838.1:p.Ser2449Tyr | |
| XM_011522537.1:c.4346C>A | XP_011520839.1:p.Ser1449Tyr | |
| XR_932867.1:n.7361C>A | ||
| XR_932868.1:n.7361C>A | ||
| XR_932869.1:n.7361C>A | ||
| XR_932870.1:n.7361C>A | ||
| XM_005255370.3:c.4223C>A | XP_005255427.1:p.Ser1408Tyr | |
| XM_011522528.3:c.7322C>A | XP_011520830.1:p.Ser2441Tyr | |
| XM_011522529.2:c.7322C>A | XP_011520831.1:p.Ser2441Tyr | |
| XM_011522537.2:c.4346C>A | XP_011520839.1:p.Ser1449Tyr | |
| XM_024450298.1:c.7388C>A | XP_024306066.1:p.Ser2463Tyr | |
| XM_024450299.1:c.7316C>A | XP_024306067.1:p.Ser2439Tyr | |
| XM_024450300.1:c.7178C>A | XP_024306068.1:p.Ser2393Tyr | |
| XM_024450301.1:c.5264C>A | XP_024306069.1:p.Ser1755Tyr | |
| NM_000296.4:c.7268C>A | NP_000287.4:p.Ser2423Tyr | |
| NM_001009944.3:c.7268C>A MANE Select | NP_001009944.3:p.Ser2423Tyr |