Linked Data
dbSNP Id:
rs757450183
ExAC:
16:2156528 A / T
gnomAD v2:
16-2156528-A-T
gnomAD v4:
16-2106527-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2106527A>T , CM000678.2:g.2106527A>T | GRCh38 |
| NC_000016.9:g.2156528A>T , CM000678.1:g.2156528A>T | GRCh37 |
| NC_000016.8:g.2096529A>T | NCBI36 |
| NG_008617.1:g.34372T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.7360T>A MANE Select | ENSP00000262304.4:p.Ser2454Thr | |
| ENST00000262304.8:c.7360T>A | ENSP00000262304.4:p.Ser2454Thr | |
| ENST00000415938.7:n.605T>A | ||
| ENST00000423118.5:c.7360T>A | ENSP00000399501.1:p.Ser2454Thr | |
| ENST00000483558.5:n.419T>A | ||
| ENST00000483731.5:n.1085T>A | ||
| ENST00000486339.6:n.1106T>A | ||
| ENST00000487932.5:c.2047T>A | ENSP00000457132.1:p.Ser683Thr | |
| ENST00000496574.6:n.1363T>A | ||
| ENST00000565639.6:n.1068T>A | ||
| ENST00000568591.5:c.2521T>A | ENSP00000457162.1:n.2521T>A | |
| ENST00000569983.5:n.716T>A | ||
| NM_000296.3:c.7360T>A | NP_000287.3:p.Ser2454Thr | |
| NM_001009944.2:c.7360T>A | NP_001009944.2:p.Ser2454Thr | |
| XM_005255370.2:c.4315T>A | XP_005255427.1:p.Ser1439Thr | |
| XM_011522525.1:c.7438T>A | XP_011520827.1:p.Ser2480Thr | |
| XM_011522526.1:c.7438T>A | XP_011520828.1:p.Ser2480Thr | |
| XM_011522527.1:c.7438T>A | XP_011520829.1:p.Ser2480Thr | |
| XM_011522528.1:c.7414T>A | XP_011520830.1:p.Ser2472Thr | |
| XM_011522529.1:c.7414T>A | XP_011520831.1:p.Ser2472Thr | |
| XM_011522530.1:c.7384T>A | XP_011520832.1:p.Ser2462Thr | |
| XM_011522531.1:c.7366T>A | XP_011520833.1:p.Ser2456Thr | |
| XM_011522532.1:c.7312T>A | XP_011520834.1:p.Ser2438Thr | |
| XM_011522533.1:c.7231T>A | XP_011520835.1:p.Ser2411Thr | |
| XM_011522534.1:c.7174T>A | XP_011520836.1:p.Ser2392Thr | |
| XM_011522535.1:c.5260T>A | XP_011520837.1:p.Ser1754Thr | |
| XM_011522536.1:c.7438T>A | XP_011520838.1:p.Ser2480Thr | |
| XM_011522537.1:c.4438T>A | XP_011520839.1:p.Ser1480Thr | |
| XR_932867.1:n.7453T>A | ||
| XR_932868.1:n.7453T>A | ||
| XR_932869.1:n.7453T>A | ||
| XR_932870.1:n.7453T>A | ||
| XM_005255370.3:c.4315T>A | XP_005255427.1:p.Ser1439Thr | |
| XM_011522528.3:c.7414T>A | XP_011520830.1:p.Ser2472Thr | |
| XM_011522529.2:c.7414T>A | XP_011520831.1:p.Ser2472Thr | |
| XM_011522537.2:c.4438T>A | XP_011520839.1:p.Ser1480Thr | |
| XM_024450298.1:c.7480T>A | XP_024306066.1:p.Ser2494Thr | |
| XM_024450299.1:c.7408T>A | XP_024306067.1:p.Ser2470Thr | |
| XM_024450300.1:c.7270T>A | XP_024306068.1:p.Ser2424Thr | |
| XM_024450301.1:c.5356T>A | XP_024306069.1:p.Ser1786Thr | |
| NM_000296.4:c.7360T>A | NP_000287.4:p.Ser2454Thr | |
| NM_001009944.3:c.7360T>A MANE Select | NP_001009944.3:p.Ser2454Thr |