Linked Data
dbSNP Id:
rs13153971
gnomAD v2:
5-149581321-T-C
gnomAD v3:
5-150201758-T-C
gnomAD v4:
5-150201758-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150201758T>C , CM000667.2:g.150201758T>C | GRCh38 |
| NC_000005.9:g.149581321T>C , CM000667.1:g.149581321T>C | GRCh37 |
| NC_000005.8:g.149561514T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000230671.7:c.858+535T>C MANE Select | ENSP00000230671.2:n.858+535T>C | |
| ENST00000230671.6:c.858+535T>C | ENSP00000230671.2:n.858+535T>C | |
| ENST00000524041.1:c.858+535T>C | ENSP00000428200.1:n.858+535T>C | |
| NM_014228.3:c.858+535T>C | NP_055043.2:n.858+535T>C | |
| NM_014228.4:c.858+535T>C | NP_055043.2:n.858+535T>C | |
| XM_017009767.1:c.1212+535T>C | XP_016865256.1:n.1212+535T>C | |
| XM_017009768.2:c.726+535T>C | XP_016865257.1:n.726+535T>C | |
| XM_017009769.2:c.726+535T>C | XP_016865258.1:n.726+535T>C | |
| XM_017009770.2:c.615+535T>C | XP_016865259.1:n.615+535T>C | |
| XM_024446190.1:c.726+535T>C | XP_024301958.1:n.726+535T>C | |
| XR_001742210.1:n.1232+535T>C | ||
| XR_001742211.1:n.1232+535T>C | ||
| XR_001742212.1:n.1121+535T>C | ||
| NM_014228.5:c.858+535T>C MANE Select | NP_055043.2:n.858+535T>C |